May 2022 Newsletter

Newsletters

NNPDF Family Support & Medical Conference

in Conjunction with INPDA Biennial Meeting

 

JOINT CONFERENCE DATES:  July 28 – August 1, 2022
NNPDF:  July 28 – 30  |  INPDA:  July 29 – August 1

Wyndham Grand Orlando Resort Bonnet Creek | Orlando, Florida

Conference Deadlines

  • Conference Registration by June 24th to receive your complimentary 2022 Family Conference shirt
  • Hotel Reservations by June 27th to receive the NNPDF hotel group rate
  • Online Registration by July 22nd on site registration will be available

DEADLINES APPROACHING!

NNPDF Cora Sterling Endurance Award

Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community. Nomination deadline is May 31st.

NNPDF Research Fellowship Applications

NNPDF is accepting Research Fellowship Applications. The Peter G. Pentchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease.

Niemann-Pick Disease research is one of the pillars of our mission and we are proud that since 1993, NNPDF has funded 52 grants and 20 fellowships totaling over $4,000,000. Many former grantees and fellows have remained active contributors in the Niemann-Pick Disease space. Contact nnpdf@nnpdf.org with questions. Application deadline is June 1st.

INPDA - ASMD Webinar Recording Available

We are pleased to share the collaborative webinar recording entitled The impacts of olipudase alfa on pediatric patients with ASMD and their families: Results of an international survey. The webinar was hosted by the INPDA, INPDR, NNPDF, and NPUK.

Thank you to those that joined us, and to our featured speakers; Sandy Cowie, President, International Niemann-Pick Disease Alliance (INPDA), Conan Donnelly, CEO, International Niemann-Pick Disease Registry (INPDR), and Justin Hopkin, Chair, National Niemann-Pick Disease Foundation (NNPDF).

Watch the recording.
View the slideshow presentation.

Join ASMD Accelerate, Help Change the Future of ASMD Care

Just over a year ago, Wylder Nation, NNPDF, and PicnicHealth launched ASMD Accelerate to help support the ASMD research community. Thank you so much to the 15 families who have contributed their child’s de-identified medical data in support of ASMD research! Every child’s story can make a difference for the future of ASMD care.

If you are interested in joining ASMD Accelerate and making a difference in the future of ASMD research, we are still enrolling new members! This research study is a way your child’s journey can contribute to ASMD research without the need for travel, lab testing, or physical record collection coordination. Additionally, if your child’s journey with ASMD has ended this study can help carry on their legacy and contribute to improving the future of ASMD care.

Visit picnichealth.com/asmd-wylder-nation or email asmdstudy@picnichealth.com with any questions.

Join ASMD Accelerate.

Pfrieger's Digest

NNPDF is pleased to share the latest edition of Pfrieger’s Digest, written by Frank Pfrieger, PhD of Niemann-Pick Selbsthiifegruppe (Germany). This publication provides a summary of research advances based on selected peer-reviewed publications in scientific journals. Read the latest issue.

Transport NPC

Cyclo Therapeutics’ May newsletter is live and shares a new column with you called “Powerful Patient Advocates.” This month features an interview with Barbara Lazarus. Read the newsletter.

Clinical Trial Update

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Orphazyme: Orphazyme announces update on in-court restructuring proceedings. NNPDF has received the following press release which speaks to the progress the team has made in finding a potential path forward for arimoclomol. Read the press release.

Community News Update

Update from Orphazyme:
Orphazyme to sell to KemPharm, Inc.: NNPDF has received the following news from Orphazyme: Orphazyme A/S under In-Court-Restructuring to sell substantially all of its assets and business activities to KemPharm, Inc.
Read Orphazyme press release.
Read KemPharm press release.

We will continue to keep you informed as more information is available. If you have any questions, please contact Joslyn Crowe, NNPDF Executive Director, at jcrowe@nnpdf.org.

Update from Cyclo Therapeutics:
Cyclo Therapeutics has shared the following letter to the NPC community. Read the letter.

Surveys, Studies & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Current surveys and studies are listed below. Contact Laurie Turner at familyservices@nnpdf.org for any questions.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

THANK YOU to Claudia Rae and Allison Reiter who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!


For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

            

Supporting one another. Supporting our community.

April 2022 Newsletter

Newsletters

Message from the Executive Director

Dear NNPDF Community,

Excitement is building for our 30th anniversary Family Support & Medical Conference! From July 28th – 30th, we’ll once again gather IN-PERSON (!!) in Orlando to share, learn, support, and be together as a Niemann-Pick community. We’ve seen over the past two years that virtual conferences are possible, and effective, but nothing can replicate the essence and importance of being together in real life.

Among all the many challenges and changes introduced by the COVID pandemic, some seem likely to linger, possibly for years. In the Niemann-Pick disease community, as in many other rare disease communities, it will be essential for us to continually monitor these changes to assess how they might affect patients, caregivers, families and others. And one of these challenges – scheduling events where patients and families can meet in person – is high on the list of factors we must consider in this new world in which we are now living.

Meeting in person has potential benefits in any sort of social or business setting. It is easier to share information (without Zoom fatigue) and have side conversations. It is also just more fun. But it has a special meaning in the Niemann-Pick community. Many will remember a time when it was difficult for patients and families with rare diseases to even find each other. There are so many stories of families who lived with NPD for years before they had a chance to meet someone who really understood what they were experiencing. And when they were eventually able to connect in person, the experience was often transformational. Suddenly there was a stronger sense of community. There was support – even if it was just words of encouragement – from someone who really “gets it” about living with a disease. 

As Liz Heinze, mom to Katie, Tyler, and Faith, all of whom passed from NPC, and daughter Serina who is an active leader of the Niemann-Pick sibling community, explains “the first conference was a game changer not only for my husband and I to meet other parents, but for our children to meet other kids with the same illness.  And, most helpful for our healthy daughter to make friends with other siblings. The friendships we make at the in-person conferences are more precious than gold. We look forward to seeing our Niemann-Pick family each year.”

In effort to provide support for individuals and families affected by Niemann-Pick disease, the NNPDF has for many years made opportunities to bring patients and families together a top priority, and our Annual Family Conference has been the largest gathering of people living with Niemann-Pick disease in the US. For 30 years, we have watched as children have met and played with other children, parents shared hugs and coping strategies, families were able to interact together with medical experts. And the Conference got bigger every year – because families experienced firsthand the benefits of meeting in-person and they wanted more.

And then COVID came. We rapidly had to find new models to foster connection. Zoom was the default, the goal was to make sure we did not lose the sense of community that joining together brings to so many families. It sufficed in this unique pandemic situation. There was no need to travel – or even dress up—and programs allowed people to easily drop in for shorter or longer periods depending on their schedules. But most people agreed that meeting in person – the ability for one-to-one conversations, spontaneous exchanges, and sharing meals – is the best way to build and strengthen the NPD community. Virtual connection worked, but the essence and importance of in-person connection was lost.

Fast forward to our new world. Some families are eager and ready to jump back to in-person gatherings and some are still hesitant. We are working to figure out the best options when it comes to staying connected, including hybrid models like our virtual conference option.

As we consider all these factors, NNPDF keeps its goal on allowing our families to stay connected and positioned to provide the levels of support and engagement that our families need.

In many ways, nothing is better than being able to meet in person – even just once a year or once in a while. Our conference promises to be dynamic and interactive, it will strengthen community ties and give participants value – in terms of emotional support, learning opportunities, and chances to connect with others. As we plan for the future, NNPDF will continue to work to make sure that we bring you the very best opportunities for friends and families to join together to help us plan for a better future for everyone affected by Niemann-Pick disease. I look forward to seeing you there.

Best wishes,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Family Support & Medical Conference

in Conjunction with INPDA Biennial Meeting

Register by May 16 for Early Bird discounted rate!

JOINT CONFERENCE DATES:  July 28 – August 1, 2022
NNPDF:  July 28 – 30  |  INPDA:  July 29 – August 1

Wyndham Grand Orlando Resort Bonnet Creek | Orlando, Florida

DEADLINES APPROACHING!

NNPDF Family Advisory Working Groups

The NNPDF will host Family Advisory Working Groups on Thursday, July 28, 2022 from 1:00 pm – 4:00 pm EST at the Wyndham Grand Hotel in Orlando prior to the start of our Family Support & Medical Conference. Pre-registration is required.

Family Advisory Working Groups will provide Industry partners the opportunity to connect privately with a group of 6-10 NPC or ASMD patients and/or immediate family members for a 3-hour session. Groups are limited to 2 adult participants per family, living in the U.S.

Participants are eligible for a $350 stipend per participant and 1-night hotel (night of July 27th) included per family. Application deadline is May 16th.

Family Conference Scholarships

NNPDF Family Conference Scholarship assistance is available to help NNPDF families (living in the U.S.) offset the cost of attending the 2022 NNPDF Family Support and Medical Conference. Scholarships are limited to the immediate family members of an individual with NPD.

The NNPDF Family Conference Scholarship will provide up to three (3) nights hotel (room and tax only*) to eligible applicants. Application deadline is May 16th.

Joele Ruppert & Joseph Colton ASMD Scholarship

NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship created in honor of the lives of these two cherished children (both diagnosed with ASMD) and their parents.

This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.

Read complete story and learn more about this scholarship opportunity. Application deadline is May 16th.

NNPDF Cora Sterling Endurance Award

Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community. Nomination deadline is May 31st.

NNPDF Research Fellowship Applications

NNPDF is accepting Research Fellowship Applications. The Peter G. Pentchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease.

Niemann-Pick Disease research is one of the pillars of our mission and we are proud that since 1993, NNPDF has funded 52 grants and 20 fellowships totaling over $4,000,000. Many former grantees and fellows have remained active contributors in the Niemann-Pick Disease space. Contact nnpdf@nnpdf.org with questions. Application deadline is June 1st.

INPDA - ASMD Survey Webinar

Join the INPDA on Thursday, May 12, 2022 at 1:00pm EST for a webinar where they will be sharing The impacts of olipudase alfa on paediatric patients with ASMD and their families: Results of an international survey.

Register here in advance for this webinar. After registering, you will receive a confirmation email containing information about joining the webinar.

Community Update Webinar Series with Sanofi - Recording

Thank you to all who joined us for the Community Update Webinar Series with Sanofi. Michael Clavadetscher and Kate Tighe of Sanofi discussed Regular Monitoring for Early Symptom Management and ASMD resources available through the Sanofi team. Watch the recording.

Pam Andrews

Mom to Belle & Abby, NPC
Firefly Fund, Co-Founder and Executive Director

Tell us a bit about yourself.
My name is Pam Andrews. I’m a sixth generation Texan and was born in a small town just outside of Austin called Brenham, Texas. You may have heard of it before, as it’s the home of Blue Bell Ice Cream. My parents met when in graduate school at the University of Texas at Austin. My mom had just graduated from law school and the only job she could find after graduation (1972), as a new female attorney in Texas, was working as a secretary in a law firm in Brenham, Texas. I have three sisters (Lisa, Jessica and Leslie) and a brother (Sean, who passed away just seven months ago).  We didn’t stay in Brenham long and moved back to Austin when I was three years old. Growing up in the 70’s and 80’s was a bit idyllic, to be honest. My siblings and I would play outside with neighborhood friends for 6-8 hours at a time on the weekends. Our bicycles got us around and we walked to and from our neighborhood school during the week. My parents worked hard and a lot and my siblings and I looked after each other. I remember using a kitchen stool to make dinner for my sisters. I wasn’t tall enough to see the top of the stove so I would get a step stool and stand on it and make dinner that way. I was probably seven years old. My grandfather (and great grandfather actually) were both doctors in Ft. Worth, Texas and Alpine, Texas. Truth be told, that was really my only exposure to healthcare or the medical profession when I was growing up. Grandaddy made house calls, delivering babies at home and I remember that he pierced kids’ ears in his office. There was the occasional penicillin shot when someone was sick, but otherwise it was delivering babies and piercing ears. My father, later in my 20’s, was diagnosed with and died from Cancer. I definitely came to understand that people get sick. However, if you had told me in 1978 or even 1994 that I would later have two beautiful daughters who would both be diagnosed with a rare genetic neurodegenerative disease, I would have thought that you were certifiable. As a young girl, I would have never fathomed this life.

I live in Austin with my husband, Chris Andrews, our two beautiful daughters, Belle (12yo) and Abby (7yo) and our two miniature poodles, Lady and Lucy. For fun you will find me taking walks in the neighborhood with my dogs or hanging out in our backyard, by the pool with my girls, and spending time with the little family that Chris and I have made. The girls are filled with joy and laughter and they truly enjoy life and enjoy talking with people in their little lives and they laugh hysterically at each other’s wild antics. They love music and singing and being silly little girls. It is my greatest joy in life, and honor really, to be Belle and Abby’s mama. It is what I enjoy the most in life.

When did you receive Belle and Abby’s diagnosis and what led to this?
Belle was diagnosed first after a diagnostic odyssey that spanned several years and included countless appointments with doctors and specialists. Leading up to Belle’s diagnosis what concerned us the most was her tripping and falling, which seemed to be getting worse with each passing day. Belle’s platelets were also always low and her spleen was enlarged. Those were the early signs that kept me tossing and turning at night. And she developed a tremor at about 3yo. For years I was told that she was within the normal range and not to worry. I was a first time mom so I didn’t have a neurotypical child as a reference, but something inside of me kept nudging me to continue pressing for answers. My nieces and nephews and Belle’s friends would come over and I would talk with other moms and no one seemed to have the same types of symptoms that we were seeing.

Finally, we met with a young doctor who was also a mom – she agreed with us that something wasn’t right. Her name is Dr. Amy White and she is now on the BOD of Firefly Fund. Belle was about 4 1/2 at the time and Abby was about 9 months old.  Belle’s diagnosis was eventually made through whole exome sequencing. It was suggested that we test Abby immediately, she was 18 months old at the time and had absolutely no reason to believe that she also had NPC. It was terrifying. As you might imagine, our pain more than doubled with Abby’s diagnosis, just 10 days after Belle.

How did you learn about NNPDF?
We learned about the NNPDF really slowly after diagnosis. Initially, the day of our diagnosis, we were given a Make A Wish form and told to take the girls to Disney World and to enjoy them. The doctor made it clear that there were no approved drugs and nothing that could be done. The only information that was given to us was a one pager on NPC and the Make A Wish form. We left the doctors office and made some calls to immediately take steps to form the Firefly Fund. Initially, we thought we were going to have to figure it all out on our own. Over the course of the next few months we had countless calls with NPC families and researchers and clinicians. We were so relieved to learn from some of those early conversations with members from the NPC Community that there was a patient organization and several mature family-led, patient inspired organizations that had been funding research for over 25 years.  We began to feel the weight of the girls’ diagnosis lift. We realized that we didn’t have to do this by ourselves.

The NNPDF was in the middle of a transition when we were diagnosed. They were looking for a new leader and for a Board Chair. I think we first met Joslyn and Justin in 2018 and that is when we really began to get to know and work with the NNPDF.  It was through the newborn screening work that Firefly Fund does that I began to really understand the significance and importance of a national patient organization in a rare disease community. The NPC Community’s interactions with the healthcare stakeholders like the medical profession, with regulators, with public health officials, with drug developers and companies, all rely on a healthy patient organization. The work that the NNPDF does is vital to the overall success of the NPC Community.

Why is newborn screening important to the Niemann Pick community and what difference can it make in the future?
Newborn Screening is a public health service that reaches 4 million babies born in the United States each year. The newborn screening program ensures that all babies are screened for certain serious life-limiting conditions at birth, and for those babies with the conditions, it allows doctors to start treatment before some of the harmful effects happen. Newborn screening is performed soon after the birth of your baby, and in most cases, while you are still in the hospital. Specific protocols for newborn screening follow up vary from state to state, as does the list of conditions screened for.  

It is my opinion that newborn screening is the single most important public health program that exists worldwide. As Belle and Abby’s mom, I understand first hand the horror of watching your child slip through your fingers while searching for answers.  The diagnostic odyssey that NPC families are forced to travel is barbaric and unnecessary in 2022. Newborn screening will provide families with information about the health status of their newborn, which will allow for early intervention. We know, and there is consensus among NPC expert clinicians, that early intervention in the NPC patient improves health outcomes. Chris and I live this reality every single day in our home as we watch the trajectory of our two daughters’ lives go in two completely different directions due to the fact that one was diagnosed before any visible signs or symptoms of the disease and one was not.  

Shortly after our diagnosis, Chris and I sought out the counsel of someone who has become our dear friend and mentor, Dr. Philip Reilly. At the time in 2016, I’d just finished his book, Orphan: The Quest to Save Children with Rare Genetic Disorders and I wanted to hear his perspective regarding where he thought there were unmet needs in the NPC Community. Dr. Reilly was the first person to encourage us to focus on newborn screening for the NPC community. He wisely explained to us, from the perspective of a venture capitalist mixed with his experience as a clinical geneticist (he has a law degree, as well), that if NPC patients can be identified at birth then what will happen as a result is that NPC patients will have plenty of treatments in no time. He explained that newborn screening for NPC would accelerate the drug development process because we would be helping “them” to help us. 

In addition to finding our patients early, newborn screening is important to the NPC Community because it will help researchers and clinicians better understand the incidence and prevalence of the disease. And data collected through newborn screening pilot studies, such as ScreenPlus in New York, will help us better understand the heterogeneity of the disease and how the variability in onset of NPC patients impacts families and the public health system. Through newborn screening, we are essentially introducing a whole new disease to the medical community – doctors, hospitals, payors, drug companies, regulators, labs, and the list goes on.  We’ve all witnessed over the past two years the havoc that a new disease state can wreck on the healthcare system and for teeny tiny, ultra rare disease groups like NPC, the onus is on the NPC Community to demonstrate that we are ready to be in the public health service referred to around the world as newborn screening.  

The process is long and arduous. There is zero room for errors. We can not misdiagnose newborns. We have to demonstrate that our short and long term clinical follow up protocols improve health outcomes for those patients identified at birth. Once we are able to identify our patients early, before any visible signs or symptoms of the disease, we will see improved clinical trial outcomes, which will lead to therapeutic approvals and maybe even therapeutic options for our loved ones.  

How can families get involved with newborn screening efforts?
I think the most important thing that families can do is to look for ways to advocate for newborn screening for NPC at home. Every state health department has a newborn screening advisory committees and in all 50 states there are rare disease parents on those committees. I sit on the Newborn Screening Advisory Committee in Texas. As I mentioned earlier, newborn screening lists vary from state to state.  Ultimately, we will need NPC to be added to every single state newborn screening list. Right now, through ScreenPlus, the NPC Community is collecting evidence necessary to be added to these lists. Once we are added to the RUSP, which I believe can happen within the next 3-4 years, we will need to immediately turn our attention to the states. Anything that parents can do to ensure that NPC is “in line” for inclusion on the various state lists would be helpful. We will add this to the agenda for one of our upcoming working group calls. Please let people know that they can reach out to me if they are interested in joining.

Another thing that NPC families can do from home is sign up for the AllStripes sibling study where data is being collected and analyzed for health outcomes for siblings diagnosed at different points of disease progression. The evidence collected through the study will provide data to the newborn screening advisory committee that will decide if NPC meets the criteria for early intervention. It is really important that families sign up for this study and it can be done from the comfort of your home computer by clicking here.

What advice would you share with newly diagnosed families?
Don’t forget to breathe. Focus on the things that bring you joy rather than on the things that you can’t change or control. Don’t be afraid to pick up the phone and reach out to other families. Ask a lot of questions. If someone is upset with you for asking too many questions, ask more questions. You are not alone and you don’t have to travel this rare journey alone, if you don’t want to. Reach out to families that have traveled the road before you and allow them to share their experience, strength and hope with you. The NPC Community is resilient and strong and committed to moving NPC into a new and different public health paradigm. None of us can do this alone and thank goodness we don’t have to.

What are your hopes for the future for your girls and for the Niemann-Pick community?
Gosh, everyday my focus and hope for my girls is that they are happy and that they know with every fiber of who they are that they are loved and cherished and absolutely adored. I hope and pray that they know that their life has purpose and meaning far beyond their NPC diagnosis. I hope they never let their NPC diagnosis define who they are. I hope they laugh often and that they rest easy knowing that Chris and I will be there beside them on this journey every step of the way. I believe that in Belle and Abby’s lifetime we will be able to render NPC a chronic disease. We have the tools necessary to do this in the NPC Community now and I believe that if we all work together, we can accomplish this goal. I was talking to another NPC mom just yesterday and we agreed that finding a drug cocktail to render NPC a chronic disease seems like an easy feat compared to the education and awareness that is necessary for stakeholders to move NPC into the healthcare system. The good news is that we don’t have to do it all in one day, but rather one day at a time we need to keep putting one foot in front of the other and doing the important work that we’ve been called to do in honor of those who came before us, for our loved ones and for those yet to be born with an NPC diagnosis in their future.   

I believe that the NPC Community should feel proud of all that has been accomplished in the past 25 years. I look forward to seeing what transpires over the next 25 years.

NPC Spotlight Web Resource

Cyclo Therapeutics’s NPCSpotlight.com is a web resource dedicated to Niemann-Pick type C. This website includes helpful information and resources for NPC patients and families, as well as information and updates on their TransportNPC clinical trial. Check out the NPC Community page to read shared journeys from JP Honsinger and Dee & Dan Reynolds.

Adult Onset Niemann-Pick type C (NPC)

Symptoms of Niemann-Pick disease type C (NPC) can vary widely. In many cases symptoms first appear early in life. However, for a subset of patients who have adolescent/adult-onset NPC, symptoms might not appear until much later. In efforts to help patients and caregivers manage NPC and access the support they need; it is important to understand some key issues related to adult-onset NPC. 

Symptoms
In infancy and childhood, NPC most often presents through physical symptoms such as yellowing of the skin or enlarged liver or spleen. In adult-onset NPC, however, many patients first experience neurological symptoms. These symptoms can lead to difficulties with coordination such as walking, eating, and talking and difficulties looking in a vertical direction. In many cases, people living with adult-onset NPC are first considered to have a mental health condition such as schizophrenia or manic-depressive or bipolar disorders. The differences in symptoms between children and adults can make adult-onset NPC very difficult to diagnose; many patients seek medical care for years before receiving an accurate diagnosis. By raising greater awareness of the symptoms of adult-onset NPC, we can help more patients and families to access the appropriate care they need as quickly as possible.

Support
While living with a rare disease can be difficult for anyone, people and families of adults living with NPC can face severe challenges that affect their emotional and mental well-being. Before symptoms appear, many people living with adult-onset NPC appear relatively healthy and are able to take part in daily activities including exercise, socializing, working and caring for their families. The onset of symptoms, however, can mean that patients decline and lose the ability to work and care for themselves or their families. Symptoms can also lead to emotional challenges and feelings of confusion and frustration. In developing a care program, it is often essential to help patients take steps to manage both their physical and emotional symptoms.

In providing support, it can often be helpful for patients and caregivers to hear from other individuals and families affected by adult-onset NPC. NNPDF board member Cara Gilmore was diagnosed with adult-onset NPC in September of 2019 and is involved in many different efforts to help patients connect to share information. She has participated in media interviews and works with physicians and advocacy groups across the country to help raise awareness. To learn more about her story or to connect with Cara, please visit the resources below.  

NNPDF Resources
NNPDF is dedicated to supporting all people who are living with NPC. We are committed to building broader awareness of adult-onset NPC in both the medical community and among the public. By doing so, we can help more people obtain an accurate diagnosis sooner and then help them get the treatment and support they need. If you or someone you know has started experiencing symptoms, we have a range of resources that can help, including information to help you find a doctor as well as options for financial support. If you have been recently diagnosed with adult-onset NPC, there are also many wonderful individuals and families who work with NNPDF to share advice and support as you navigate this journey.

Our annual Family and Medical Conference is a perfect opportunity to meet with other patients and families who understand the challenges of living with adult-onset NPC and who can share helpful information or just be there to listen. For more information on our conference, please visit this link. At NNPDF we are also continuously working to support research that can lead to new treatment options for people impacted by NPC at any age and we are continually working to expand the resources and services we have to help. For information visit our website or contact us directly at familyservices@nnpdf.org. We are here to help.

Newborn Screening Update

Community Activities and Research to Add Niemann-Pick Disease to Newborn Screening Lists Continues

Niemann Pick Type C
Community Activities and Research to add NPC to Newborn Screening lists at the state and federal level in the United States continues to advance in 2022. Please find a summary of these activities below. Additionally, the International Niemann-Pick Disease Alliance has launched a newborn screening initiative with the goal of building an international road map for ensuring that NPC is added to newborn screening lists around the world, where applicable.

  • ScreenPlus is underway in New York with active recruitment at one NY hospital and an additional eight NY hospitals set to begin recruitment as early as this summer. The three major goals of the pilot study are (1) define the analytic and clinical validity of multi-tiered screening assays for 14 disorders, including NPC; (2) determine disease incidence in an ethnically diverse population; and (3) assess the impact of early diagnosis and treatment on health outcomes through the use of longitudinally collected clinical, biomarker, radiographic, and biochemical data. The addition of the remaining hospitals in NY will be an important step towards screening the volume of patients needed for inclusion on newborn screening lists. The ScreenPlus team is working tirelessly to ramp-up, despite the continuing limitations posed by COVID19.  You can learn more about ScreenPlus here.
  • All Stripes is conducting a study of siblings diagnosed with NPC comparing outcomes for siblings diagnosed at different stages of disease progression and intervention. NPC families in the U.S., Canada and the U.K. are welcome to join the AllStripes program to stay updated and be part of future projects. AllStripes does the work to collect your records and make them accessible in your secure account, at no cost. The goal of the study is to have at least 80 NPC patients participating and to date 64 families have enrolled. If you haven’t already, please take a moment to join the AllStripes study here and contribute to this NPC research project without leaving home.
  • Clinical Roundtable NPC clinical experts working to align on key issues such as timing for treatment initiation; measuring disease progression, and the role and value of natural history data. Members of the Clinical Roundtable, led by Drs. Berry-Kravis and Patterson, are working on an update to NPC clinical guidelines that will focus on the importance of early diagnosis and intervention in Niemann-Pick Type C.  

Community members will hear updates from researchers related to these important newborn screening activities and advancements for Niemann-Pick Disease at the upcoming 2022 Michael, Marcia and Christa Parseghian Scientific Conference in Tucson, Arizona, May 21-24, the National Niemann-Pick Disease Foundation Annual Family and Medical Conference in Orlando, Florida, July 28-30, and the International Niemann-Pick Disease Alliance Annual Meeting in Orlando, Florida, July 29-August 1.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

THANK YOU to Kim O’Riley Lucht, Dani Ganter, and Alyssa Gallegos who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

Surveys, Studies & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Current surveys and studies are listed below. Contact Laurie Turner at familyservices@nnpdf.org for any questions.

Duke-Margolis NPC Public Workshop Update

A public workshop was previously held by Duke-Margolis Center for Health Policy, sponsored by the FDA. This virtual public workshop allowed participants the opportunity to discuss clinical endpoints relevant to NPC clinical trials and innovative strategies to support therapeutic development for patients with NPC.

Following this workshop, NNPDF submitted a letter and supporting materials to the FDA and Duke Margolis Center for Health Policy in response to the docket.  We are currently awaiting the Summary Document from this workshop which we will share widely once it is available.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!


For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

            

Supporting one another. Supporting our community.

March 2022 Newsletter

Newsletters

APPROVAL!!

We are pleased to share the important news from Sanofi that the ASMD community now has its first and only approved treatment option available for ASMD! Sanofi’s Xenpozyme (olipudase alfa) is now approved in Japan for the treatment of children and adults with non-CNS manifestations of ASMD.

John Reed, MD, PhD, Executive Vice President, Global Head of Research and Development of Sanofi expressed that “today’s approval of Xenpozyme is a watershed moment for ASMD patients and their families, representing 20 years of research and the shared efforts of advocacy partners, clinicians, and patients. As the world’s first medicine approved for ASMD, Xenpozyme offers a potentially transformative option for this historically neglected community.”

NNPDF joins the entire community in celebrating this historic win! Read complete press release.

Message from the Board Chair

This has been a historical week for the ASMD community. On March 28, Sanofi announced that olipudase alfa was approved in Japan for the treatment of pediatric and adult patients with ASMD! This is the first and only approved therapy for ASMD patients in the world! It took a village to help us reach this amazing milestone!

Key contributors include Dr. Edward Schuchman who identified the gene encoding, the enzyme involved in ASMD. He also developed the mouse model for ASMD and the first genetic screening test for ASMD. In addition, he pioneered enzyme replacement therapy for ASMD and collaborated with Sanofi to help bring olipudase to clinical trials. Thank you, Dr. Schuchman!

Our deepest appreciation for all the clinicians, genetic counselors, nurses and professionals that carried out the olipudase alfa trials. The clinical leaders at trial sites around the world included Simon Jones, Maurizio Scarpa, Karl Mengal, Robert Giugliani, Nathalie Guffon, Antonio Barbato and Isabele Batsu. Here in the U.S., we are especially grateful for Drs. Renata Gallagher, George Diaz, and Melissa Wasserstein, along with their amazing clinical teams, for their tireless efforts in not only leading these clinical trials but for providing great care for all our patients. We are so appreciative for your time, your effort, your passion and your leadership.

We would also like to thank all the patients and families who participated in the olipudase clinical trials. In the beginning, it was the original 5 adults who have now all continued to be part of the clinical trial for almost a decade! They have donated hours, days, weeks and years to the community. Through their efforts, we understand the persistent benefit of olidpudase can be seen years after starting therapy. Our appreciation to the pediatric patients and families who have also been involved in the clinical trial for up to 7 years. Lastly, a heartfelt thanks to all the adults who enrolled in the ASCEND trial, a year long trial that required travel to an approved site every two weeks for a year with a 50/50 chance of receiving placebo during the study period. In an ultra rare disease with a limited number of patients, each trial participant’s data, including the placebo data, is critical in demonstrating the benefit of this therapy. Thanks to all!!!

We appreciate Sanofi’s work in the rare disease space and commitment to providing the first approved therapy for all Nieman-Pick patients. We understand that an approval in Japan does not translate to approvals elsewhere. However, it is a tremendous first step in our goal of allowing all patients with ASMD to have the opportunity to receive an approved therapy. NNPDF will continue to advocate for approval in the U.S. and around the world. Thank you all for supporting the advocacy work we do and supporting the NNPDF. Let’s work together to push this approval across the finish line in the coming months.

Read the complete press release.

With Warm Regards,


Justin Hopkin, MD
NNPDF Board Chair

NNPDF Family Support & Medical Conference

in Conjunction with INPDA Biennial Meeting

JOINT CONFERENCE DATES:  July 28 – August 1, 2022
NNPDF:  July 28 – 30  |  INPDA:  July 29 – August 1

Wyndham Grand Orlando Resort Bonnet Creek | Orlando, Florida

____________________________________________

Conference Registration  |  Hotel Reservations  | Conference Information

nnpdfconf.org

NNPDF Family Advisory Working Groups

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) will host Family Advisory Working Groups that will take place on Thursday, July 28, 2022 from 1:00 pm – 4:00 pm EST at the Wyndham Grand Hotel, Orlando. This is an optional event that will take place prior to the start of our Family Support & Medical Conference. Pre-registration is required.

Family Advisory Working Groups will provide Industry partners the opportunity to connect privately with a group of 6-10 Niemann-Pick Type C or ASMD patients and/or immediate family members for a 3-hour session. Due to limited space, there is a limit of 2 participants per family. Participants must be adults living in the United States. Participants are eligible for a $350 stipend per participant and 1-night hotel included per family (night of July 27th). Application deadline is May 16th.

Family Conference Scholarships

Scholarship assistance is available to NNPDF registered US families attending the NNPDF Family Support and Medical Conference in Orlando, Florida from July 28 – 30, 2022.

Assistance is available to help NNPDF families living in the US, who are experiencing financial need to help offset the cost of attending the 2022 Family Support and Medical Conference. Family Conference Scholarships are limited to immediate family members of an individual with NPD. The NNPDF Family Conference Scholarship will provide up to three (3) nights hotel (room and tax only*) to eligible applicants. Application deadline is May 16th.

NNPDF Cora Sterling Endurance Award

Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community. Nomination deadline is May 31st.

Joele Ruppert & Joseph Colton ASMD Scholarship

Joele Ruppert and Joseph Colton are a much-loved daughter and son, both diagnosed with ASMD. This scholarship has been created in honor of the lives of these two cherished children and their parents who embodied the highest values of the human spirit. Read complete story and learn more about this scholarship opportunity. Application deadline is May 15th.

NNPDF Research Fellowship Applications

NNPDF is accepting Research Fellowship Applications. The Peter G. Penchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease.

Niemann-Pick Disease research is one of the pillars of our mission and we are proud that since 1993, NNPDF has funded 52 grants and 20 fellowships totaling over $4,000,000. Our fellowships and grants have contributed to the identification of disease-causing genes, insights into the pathogenesis of NPC1 & NPC2, support of the NPC cat model at a critical juncture, and development of an assay for newborn screening. Many former grantees and fellows have remained active contributors in the Niemann-Pick Disease space. Application deadline is June 1st.

Contact nnpdf@nnpdf.org with questions.

Family Journey with Ashley Lewis

During our 2021 NNPDF Family Support & Medical Conference we were honored to have Niemann-Pick community members share their Niemann-Pick stories with us.

Today we feature Ashley Lewis, Mom of Linwood, sharing her family story of living with ASMD. Thank you, Ashley for sharing your personal story with us. Watch Ashley’s family journey.

INPDA Letter to CHMP Members

The International Niemann-Pick Disease Alliance (INPDA) sent the following letter in support of Orphazyme’s candidate in NPC to the Committee for Medicinal Products for Human Use (CHMP) members at the European Medicines Agency (EMA) in advance of the recent review of Arimoclomol.

THANK YOU to the nearly 500 family members from around the world who signed their support as well! Read the letter.

Rare Difference Maker

NNPDF’s Joslyn Crowe and Laurie Turner were recently featured in Engage Health’s Rare Disease Difference Maker project. This project was created to recognize researchers, physicians, organization leaders, patients, parents, teachers, friends, and many others who have contributed immensely to the rare disease space. Read their story.

João Paulo De Souza

Sr. Program Manager, AllStripes

Tell us a bit about yourself, such as where do you live and what do you enjoy doing?
My name is João Paulo – I know, it’s a bit of a tongue twister, but most people call me JP. I’m a Bay Area native who returned after living in San Luis Obispo, California. From an early age, I knew I wanted to help people. After graduating from the University of California, Berkeley, most of my work has been in a variety of clinical and biotech settings: from creating treatment plans for children with varying developmental disorders to using AI for blood diagnostics.

These days, I’m a Sr. Program Manager at AllStripes, where our mission is to unlock new treatments for people affected by rare disease. I’m fortunate to work alongside many dedicated and talented individuals working toward the same mission, and seeing amazing work being done for communities like NPC. During my free time, I take advantage of the many hikes and parks the Bay Area has to offer with my best friend Samson, my 4-year-old Goldendoodle. I love to experience different cultures through travel, and of course, using my taste buds.

What caused you to get involved in the Niemann-Pick community?
The NPC Sibling Study was one of the first projects I started helping with when I joined the team here at AllStripes. Since then, I’ve had the privilege of working closely with NNPDF, Firefly Fund, Niemann-Pick Canada, and the Ara Parseghian Medical Research Fund. Our work has allowed me to connect with members of the community and hear such unique and powerful stories, which continue to drive me each and every day.

How does the NPC Sibling Study support early NPC intervention?
The intent of the Sibling Study is to provide evidence to support the inclusion of NPC in newborn screening (NBS) programs. Achieving this will allow physicians to diagnose babies with NPC early, which will allow for early intervention. Early intervention may increase the effectiveness of treatments and improve quality of life. Getting NPC added to newborn screening panels would be a huge accomplishment and success for the community!

Why are sibling pairs needed for this research?
In short, the Sibling Study is attempting to show the effects of early intervention. How will this research project do this? When two siblings have the same diagnosis and one sibling had intervention earlier than the other, researchers can determine whether intervening early leads to slower symptom onset and/or decreased severity of symptoms.

Why is data from families whose loved ones have passed important to the study?
While there’s currently no cure for NPC, there have been advancements in treating it. Some of these advancements are recent enough that, in some cases, people who have died from NPC did not have the chance to be treated with disease-specific therapies. Comparing medical records from deceased patients to medical records from living patients can help provide evidence that early diagnosis and intervention makes a real difference. This means the records of loved ones who have passed away from NPC are especially helpful for researchers trying to build evidence for adding NPC to newborn screening.

What are your hopes for the future of the Niemann-Pick community?
My hope is that our work with the NPC community can support the addition of NPC to newborn screening panels. Beyond that, our goal is to unlock new treatments for the NPC community. There are many like me who are working toward this goal, and the Sibling Study is just the first study we hope to work on for the NPC community.

How can families get involved?
To join other patients and families on AllStripes go to allstripes.com/npc.

If anyone has any questions about the study of AllStripes, please feel free to email support@allstripes.com.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

THANK YOU to the Brighton Basketball community who recently held a Super Bowl Square Fundraiser to help raise awareness of Niemann-Pick disease and funds for the NNPDF.

“This foundation is important for our community as we look forward to supporting Garrett Hopkin and his family. Garrett lives with Nieman-Pick Disease and is our biggest fan! He is a current student at FRES and has siblings in both the boys (Grady) and girls (Avery) basketball programs.”

THANK YOU to Dawn Cooley, Carol Anderson, Jennifer Gregory, Mari Lombardo Sanetra, and Kayla Miller Smith who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

BENEFIT Act of 2021

NNPDF recently signed on to a letter to US Senators and Representatives in support of the BENEFIT Act of 2021. The Better Empowerment Now to Enhance Framework and Improve Treatments Act of 2021 (BENEFIT Act of 2021) is a bill that requires the US Food and Drug Administration (FDA) to consider relevant patient-focused drug development data, such as data from patient preference studies and patient-reported outcome data, in the risk-benefit assessment framework used in the process for approving new drugs. Read the letter.

Surveys, Studies & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Current surveys and studies are listed below. Contact Laurie Turner at familyservices@nnpdf.org for any questions.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Sanofi:
We are pleased to share an important update from Sanofi: Xenpozyme® (olipudase alfa) APPROVED in Japan, first and only approved therapy indicated to treat acid sphingomyelinase deficiency (ASMD). Read the press release.

Update from Orphazyme:
NNPDF has received the following communication from Orphazyme regarding this week’s press release on arimoclomol programs for NPC. Read the letter and press release.

Community News Updates

Announcement from Azafaros:
Azafaros announces FDA Grant of Orphan Drug Designation for AZ-3102 in the treatment of Niemann-Pick Disease type C. Read complete announcement.

INPDA Letter on Arimoclomol to CHMP Members
The International Niemann-Pick Disease Alliance (INPDA) sent the following letter to the CHMP members at the European Medicines Agency (EMA) in advance of the upcoming review of Arimoclomol. Thank you to the nearly 500 family members from around the world who signed their support as well! Read the letter.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!


For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

            

Supporting one another. Supporting our community.

January – February 2022 Newsletter

Newsletters

Message from the Executive Director

Dear NNPDF Community,

It is hard to believe that the first months of the New Year is already over, but this is a great opportunity to provide an update on our plans and goals for the rest of 2022. Once again, our focus at NNPDF will be in the areas that are most important to the Niemann-Pick community, including support services, research, and access to treatment. Our goal is to find new ways to support the critical need to bring more treatment options to the community.

We are optimistic about the recent news shared by all of our pharmaceutical industry partners about progress in their ASMD and NPC programs and we maintain our primary focus of obtaining multiple treatments approved by regulatory and available for access by all families throughout the U.S.

More than ever, we must take every step possible to get patients access to treatments that can help. In many cases, these opportunities are driven by data – and so NNPDF will continue to expand the focus on both collecting and sharing patient and clinician-reported data. This is a critical need because Niemann-Pick can progress in different ways and at different speeds. Regulators and researchers need more insights about the impact of Niemann-Pick disease to make informed decisions. Access to data will play a central role in shaping current and future efforts to develop treatments and position them for approval. To help support this initiative, we will be working closely with the International Niemann-Pick Disease Registry (INDPR) – a patient owned registry designed to collect and share both patient and clinician data. We have also developed a patient reported outcomes survey that will help provide more data to better understand the impact of ASMD and will yield important information for use with regulatory agencies including the U.S. FDA.  

As we work to emphasize the importance of patient data, we hope that you will join us in our efforts to collect individual experiences. Your input can provide new insights and help to confirm details about the impact of Niemann-Pick that can help to advance research in the months and years ahead. Throughout the year we will be conducting surveys and working with industry and regulatory leaders through webinars and other events to ensure that the patient experience is taken into consideration in all areas where it is essential to help guide decisions about research and treatments. If you are interested in sharing your experience or getting more involved in these efforts, please reach out to us at nnpdf@nnpdf.org.

While we expand our focus in this area, we will also continue to look for new ways to support Niemann-Pick families with services and information. We encourage you to take advantage of any NNPDF resources and also help us to reach more people who need them. We also welcome your ideas for any new issues we can address or any additional services that can help make your journey easier. I would like to thank you for your continued dedication to making a positive difference for people living with Niemann-Pick disease. I am confident that we will accomplish many great things this year as we all work together. As always, please do not hesitate to reach out if you have any questions about our work at NNPDF and the many ways that you can join in these efforts.    

Best wishes,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

Rare Disease Week on Capitol Hill

Virtual Rare Disease Week on Capitol Hill events will be held February 22nd through March 2nd.

Registration is open for Virtual Rare Disease Week on Capitol Hill and will include the same opportunities as in-person Rare Disease Week, plus more! Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators.

Visit everylifefoundation.org for complete details on:

Now more than ever, it’s important for Niemann-Pick families to communicate our priorities and concerns to decision-makers and leaders!

#EveryVoiceMatters #NiemannPick #ASMD #NPC
Supporting One Another. Supporting Our Community.

Rare Disease Day - February 28th

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. It promotes raising awareness and generating change for the 300 million people worldwide living with a rare disease such as Niemann-Pick, their families and carers, and what it means to be rare.

Anyone can get involved in Rare Disease Day awareness. Participants can find helpful resources, activities and events to get involved at rarediseaseday.org. This global event was founded by EURORDIS and is sponsored by the National Organization for Rare Diseases (NORD).

Participation is easy!

  • Download and use the I Support Rare Disease badge as your profile on your social pages. (Please Note: Customized profile frames are no longer offered by Facebook.)
  • Share your NNPDF community members’ “rare” stories and videos from NNPDF’s (public) social pages. Find us on Facebook, Instagram and Twitter.
  • Share the global Rare Disease Day infographics from NNPDF’s social pages.
  • Register to attend virtual Rare Disease Week on Capitol Hill.
  • Participate in the Scavenger Hunt during virtual Rare Disease Week on Capitol Hill for a chance to win a grant for National Niemann-Pick Disease Foundation which will provide continued awareness and support for the Niemann-Pick community.
  • Share Your Story for a chance to win a donation to NNPDF. Your rare disease stories are pathways to treatments and cures! 

Taking the Lead with ASMD: Navigating the Healthcare System Presentation

Please join Sanofi Genzyme for their educational presentation Taking the Lead with ASMD: Navigating the Healthcare System taking place on Tuesday and Thursday February 22 and 24th. This virtual educational presentation will focus on tips for identifying your healthcare team, preparing for medical appointments, staying on top of your management plan, and more.

Tuesday, February 22nd registration: surl.sanofi.com/asmd222
Thursday, February 24th registration: surl.sanofi.com/asmd224

NNPDF In Action

Joslyn Crowe, Executive Director and Justin Hopkin, Board Chair attended WORLDSymposium 2022 last week where they heard the latest updates on research in lysosomal storage diseases. They presented a poster co-authored by NNPDF on “A qualitative study to understand caregivers’ burden of acid sphingomyelinase deficiency” and were able to connect with several colleagues in the rare disease space.

VIEW POSTER:  A qualitative study to understand caregivers’ burden of acid sphingomyelinase deficiency

NNPDF Board Member Update

A heartfelt THANK YOU to Kara Ayik for serving as an NNPDF Board Member. Your dedication, service, and commitment to the National Niemann-Pick Disease Foundation and the families it supports has been extraordinary.

Help for the Holidays

Sixteen NNPDF Community member families had help in making their holidays a little brighter thanks to an anonymous special donor. Our donor family wished to help ease the burden of Holiday stress, knowing that living with NPD can be difficult.  NNPDF was able to assist with over 150 items for families.

THANK YOU to our donor family – “… you all made us very happy with your act of love.”

  

Duke-Margolis NPC Public Workshop Update

A public workshop was recently held by Duke-Margolis Center for Health Policy, sponsored by the FDA. This virtual public workshop allowed participants the opportunity to discuss clinical endpoints relevant to NPC clinical trials and innovative strategies to support therapeutic development for patients with NPC.

Several of our Niemann-Pick community members were able to share their stories during this event. As a community, we thank them for advocating on behalf of the entire NPC community to ensure that our families and expert clinicians voices are heard and incorporated into decision making and outcomes.

Read Family Statements

You may continue to submit comments for this workshop to Docket FDA-2021-N-1297 until April 25, 2022.

Joele Ruppert & Joseph Colton ASMD Scholarship

Joele Ruppert and Joseph Colton are a much-loved daughter and son, both diagnosed with ASMD. This scholarship has been created in honor of the lives of these two cherished children and their parents who embodied the highest values of the human spirit. Read complete story and learn more about this scholarship opportunity.

APPLICATION DEADLINE IS MAY 15, 2022.

Volunteer Opportunities

Sign up to volunteer and help make a difference in our community!

Volunteers are essential to our Niemann-Pick community to support awareness and keeping our family support organization moving forward. We are currently collecting resumes and letters of interest from those interested in volunteering their skills and time to assist in the following positions with the NNPDF organization: 

  • Board Members
  • Committee Teams 
  • Focus Groups

If you are interested in becoming a NNPDF volunteer, please send letter of interest by MARCH 15th to jcrowe@nnpdf.org and we will follow up with you with the process for applying. Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do. 

Supporting One Another. Supporting Our Community.

NNPDF Research Fellowship Applications

NNPDF is now accepting Research Fellowship Applications. The Peter G. Penchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease.

Niemann-Pick Disease research is one of the pillars of our mission and we are proud that since 1993, NNPDF has funded 52 grants and 20 fellowships totaling over $4,000,000. Our fellowships and grants have contributed to the identification of disease-causing genes, insights into the pathogenesis of NPC1 & NPC2, support of the NPC cat model at a critical juncture, and development of an assay for newborn screening. Many former grantees and fellows have remained active contributors in the Niemann-Pick Disease space.

Contact nnpdf@nnpdf.org with questions.

Application Deadline is June 1, 2022

Newborn Screening

Firefly Convenes 3rd Annual Newborn Screening Clinical Roundtable

More than 30 clinicians and researchers participated in Firefly’s 3rd Annual Newborn Screening Roundtable chaired by Drs. Elizabeth Berry-Kravis and Marc Patterson. Held at the end of 2021, the work to get expert alignment on key issues such as timing for treatment initiation; measuring disease progression, and the role and value of natural history data took on additional significance.

A few key Take-Aways:

  • An in-meeting survey found unanimous agreement that developmental delay, specifically developmental slowing or stagnation which occurs before regression, is an important manifestation of disease onset, in early onset NPC
  • Experts agreed on the need to publish an update to NPC guidelines focused on disease modifying tools and the value of early intervention authored by physicians, scientists, and patient groups
  • NPC NBS research is underway: Pilot NBS study in New York and a study comparing outcomes for siblings diagnosed at different stages of disease progression and intervention

AllStripes NPC Sibling Study Update

We are excited to share AllStripes’ blogposts featuring Niemann-Pick family stories from Liz Heinze and Cindy Parseghian. 

AllStripes NPC Sibling Study is a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs. 

Read Lifting up Legacy Families by Liz Heinze and I learned I Couldn’t Do This Alone by Cindy Parseghian. Thank you both for sharing your powerful and moving stories to reach our Niemann-Pick community and beyond.

Rare Disease Advisory Councils

NNPDF continues to support Rare Disease Advisory Councils (RDACs) across the country. RDACs give rare disease community members a unified voice in state government and provide a valuable resource to elected officials on rare disease education and challenges. Currently, only 21 states have RDACs. NNPDF has recently signed on to RDAC in the state of Mississippi. Read the letter and learn more about this issue.

Share Your Voice! A message from Cyclo Therapeutics…

Perspectives from the Niemann-Pick disease community play a central role in every area of our work. We are working to enroll NPC patients in our Phase 3 Program called TransportNPC™, which is currently the most advanced clinical research program in NPC in the world.

To help support and guide our work in the months and years ahead, Cyclo is establishing a new NPC Patient and Caregiver Advisory Board that will help to bring our team a broad range of perspectives and opinions that will support our work, while making sure that our work is aligned with the most urgent needs of the community. Patients and caregivers who join our board will have the opportunity to join in a two-way interaction that is designed to advance understanding of the burden of NPC, the needs of the community and the best ways to advance research.  Through these discussions, Cyclo will collect feedback and use this guidance to plan for our continuing efforts to develop a treatment for NPC.

The Board will be comprised of 6-8 NPC disease advocates based in the United States. These members will be invited to work with many different members of the Cyclo team to build a better understanding of our mutual goals and the best ways to advance research moving forward. If you are interested, please reach out to lori.gorski@cyclodex.com.

Community Update Webinar with IntraBio - Recording

The recording for the Community Update Webinar Series with IntraBio is now available. Thank you to Taylor Fields, Chief Product Development Officer and Tatiana Bremova-Ertl, MD, PhD, Department of Neurology, University Hospital Bern for sharing this important update on N-acetyl-leucine (IB1000s) for the treatment of NPC. View the recording.

Super Siblings Hangout with Serina!

A special event was recently held for our younger SUPER SIBLINGS to come together and virtually chat with Serina Heinze. The virtual chat allowed our ASMD and NPC unaffected siblings to have some time together to ask questions to Serina and share with one another, in hope of encouraging important relationships amongst our younger siblings. Thank you Serina for your continued commitment to support our younger siblings.

If your family’s super sibling (ages 6 to 12) has any questions for Serina, or to contact her at any time, email nnpdf@nnpdf.org.

Family Support & Medical Conference - Visit Orlando!

Join us in Orlando from July 28-31, 2022 at the Wyndham Grand as we come together for our 30th Annual NNPDF Family Support & Medical Conference! This year we will gather in conjunction with families and delegates from the International Niemann-Pick Disease Alliance (INPDA).

Start planning your stay by checking out some great conference attendee offers from Visit Orlando! Watch for conference registration, hotel reservation info, and health and safety guidelines coming soon!

Lindsay Horsman

Mom of Caleb – NPC

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
My name is Lindsay and I have two amazing kids, Aubrey and Caleb. We live in a small town in Calvert County, which is south of Annapolis, Maryland and Washington, D.C.  Caleb is a courageous 8 year old who is always ready for his next adventure. He is in the 3rd grade at the same school where I teach first grade. We have 2 mini-dachshund puppies, named Olive and Evie, who always keep us entertained. Caleb loves to be out on the water, tubing, crabbing, and swimming. He loves trying all different kinds of sports, his favorite at the moment is golf. Caleb loves being outside, playing with Aubrey, and is always willing to curl up to snuggle with someone.

 

When did you receive Caleb’s diagnosis and what to led to this?
Caleb was born March 4, 2013. He had jaundice at birth which was not alarming in itself at the time because many babies have jaundice when they are born. At Caleb’s two month wellness appointment, his pediatrician noticed he still had signs of jaundice and a distended belly. This led us to five long months of visits to different specialists and all kinds o

f testing and labs with no definitive answers. On October 15, 2013, Caleb was diagnosed with Niemann-Pick Type C disease. We were in shock and were told nothing to prepare us for this fatal diagnosis.

Within two weeks, we were in contact with NIH and had our first visit scheduled to be a part of their natural history study. We knew very little about treatment options but knew we had to do something to help Caleb fight this disease. In 2019, Caleb started Adrabetadex at RUSH University Medical Center. We traveled back and forth to Chicago from Maryland for a year. Thankfully Children’s National Hospital in Washington DC started allowing Caleb to receive treatments right before the pandemic. It was nice to be closer to home both for Caleb’s well-being and the family.

How did you learn about NNPDF?
Caleb’s diagnosis was an emotional roller coaster. I remember going to work the next day and getting upset because I felt like everything in my life was in question and people around me could never understand this feeling. I had a child with a fatal diagnosis and there was nothing I could do to help him. It was the most helpless feeling. It took me awhile to come to terms with his diagnosis. I was afraid to start researching because I was afraid of what I would find out. One of the first resources I came across was the NNPDF website. I realized that it wasn’t all just sad, scary stories. The NNPDF website brought relief to see that we weren’t alone in this frightening experience and there was help out there. It was encouraging to see all the support this community provided to each other and as frightening as it was to learn more and more about NPC I knew knowledge was crucial and I had to learn as much as could in order to help Caleb in this battle.

How has being an NNPDF member supported your family?
NNPDF has an amazing network of families, doctors, advocates, and patients. Being a member has helped connect our family to this amazing support system and helped us walk through this journey. Early on we knew we wanted to do our part to help raise funds for research and to spread awareness of NPC. Since our family lives by the bay and enjoys a good crab feast we reached out to a local restaurant to host Crabcakes for Caleb. We’ve had several years of successful years raising funds with the support of our friends and family. We appreciate all that NNPDF has done to contribute to our fundraising success. NNPDF helped guide me through the fundraising process and supported our family every step of the way.

What advice would you share with newly diagnosed families?
You are not alone. Reach out for support. There are so many amazing families that have experienced the despair and pain that you are going through with either a long, stressful diagnosis, understanding this complex disease, and/or deciding on treatment options and what’s best for your child. Everyone’s situation is different and unique, and you must do what is best for your family. You are your child’s best advocate.

      

AllStripes NPC Research Program

NNPDF is excited to partner with the Firefly Fund, Niemann-Pick Canada, the Ara Parseghian Medical Research Fund and AllStripes to create a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs. To move this research forward, we are looking for families of 40 sibling pairs with NPC willing to contribute their de-identified medical records.
Learn how you can help.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Cyclo Therapeutics: 
Cyclo Therapeutics announces the formation of a Global Steering Committee comprised of leading experts to advise on the global Phase 3 clinical development program for Trappsol® Cyclo™ in Niemann-Pick Disease Type C. Read complete update.

Update from Orphazyme:
Orphazyme has provided an update for the planned NDA resubmission for arimoclomol for the treatment of Niemann-Pick disease type C in the United States. Read the complete update.

Updates from Sanofi:
Sanofi has shared an important update on olipudase alfa: Olipudase alfa shown to provide sustained improvement across multiple clinical manifestations of ASMD. Read the press release.

Sanofi shared their Q1 Earnings Report which includes an important update on the Olipudase Alfa program. Read complete report.

Community News Updates


Update from Mandos Health:  Mandos Health has shared the following January 2022 update has been shared with the NNPDF. Read complete update.

Update from Orphazyme:
Orphazyme has shared the following update has been shared with the NNPDF. Read complete update.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!


For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

THANK YOU to Niki Matchen, Pat Danielson, Carolyn Sowards, Donna Butts Price, Athan Eric Master,  Franchesca Polo, and Keith Travels who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

       

Supporting one another. Supporting our community.

December 2021 Newsletter

Newsletters

Message from the Executive Director

Dear NNPDF Community,

As we approach the end of 2021, this is a perfect time to reflect on the progress we have made this year in the Niemann-Pick community and to outline some important goals for 2022. Over the past several months, the National Niemann-Pick Disease Foundation has been working in many ways to advocate on behalf of families and to raise broader awareness of the critical need for access to treatment for Niemann-Pick patients. We have partnered with industry leaders and other advocacy groups to highlight many important issues related to Niemann-Pick, including the importance of sharing data and understanding the patient journey. We have also helped community members to advocate on behalf of their loved ones in the media and on social media, helping thousands of people to better understand the impact of Niemann-Pick disease.

Recently, NNPDF Board Chair Dr. Justin Hopkin and I authored an article that was published in Nature Magazine’s Scientific Reports on the impact and burden of acid sphingomyelinase deficiency (ASMD) from a patient and caregiver perspective. This article provides many important insights that we gathered in meetings with patients and families who talked about their experience living with ASMD. We hope that the efforts by these patients will help others better understand ASMD and join in the effort to support patients and families. The data collected can also play an important role in helping researchers advance their work and supporting faster diagnosis and better treatment.

NNPDF has also been working with AllStripes, a leading patient advocacy organization, to complete the NPC Sibling Study, a landmark effort to better understand the impact of early diagnosis on families affected by NPC. New insights from this study can play an important role in supporting the need for newborn screening for NPC. We also completed another important study that focuses on insurance literacy in the Niemann-Pick community in an effort to better understand the financial burden that families face and how we can address them.

Heading into 2022, we will be looking at many new ways to expand our efforts to address critical needs for our community. We will continue to fight for broader access to data from clinical research that can be used to support future research efforts. We will also look to develop new and more effective opportunities to partner with industry leaders to find paths forward for research that can lead to new treatments. And we will work aggressively to help regulators better understand the impact of Niemann-Pick disease and how they can consider innovative and essential new approaches in their review and approval procedures for new drugs to get them to the approval finish line.

As I look forward to the New Year, I am so encouraged by bravery and resilience of the many families that work with us. I believe our community is stronger than ever. Throughout 2021, we had some signs of progress, and we faced some setbacks when promising clinical development programs and trials were either cancelled or failed to win FDA approval. In response, we saw our community join together to fight even harder to address the issues that are important to us. I am inspired by so many examples of bravery and determination. Dale Carnegie once said, “Most of the important things in the world have been accomplished by people who have kept trying when there seemed to be no hope at all.”  Our community is continuing to fight for our families despite our challenges. We are closer than ever to having approved treatments in Niemann-Pick disease. And together we will make a positive difference.

I would like to thank all the members of the Niemann-Pick community and the many partners who work with us for your amazing strength, dedication, and support over this past year. All of us at NNPDF are honored to continue advocating for this community. Supporting patients and families is our mission – we are proud to deliver these services and more to the Niemann-Pick community in 2022 and beyond.

Sending you warm wishes for the holiday season.

With gratitude,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

2021 Remembrances

As 2021 comes to a close, we remember not only the families of those we’ve lost, but of those that remain. Please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.

Supporting One Another. Supporting Our Community.

Shop AmazonSmile

When you shop AmazonSmile this holiday season, be sure to designate National Niemann-Pick Disease Foundation as your favorite charity! It’s an easy way to make an impact for Niemann-Pick families. Shop AmazonSmile and Amazon will donate to the NNPDF. It’s easy! Learn more and sign up. You shop. Amazon gives.

Milestones

 

CONGRATULATIONS to Serina Heinze on her recent graduation from University of Central Florida (UCF) with a Bachelor of Science degree in Nonprofit Management and a minor in Public Administration. Serina has accepted the Volunteer Services Coordinator position at Give Kids The World Village in Kissimmee, Florida, a resort providing cost-free wish vacations to critically ill children and their families. Serina is responsible for fulfilling over 200 daily volunteer shifts to successfully operate all Give Kids The World areas.

Serina has played an integral part in supporting our NNPDF siblings’ programs and Activity Zone over the past several years, honoring the memory of her dearly loved siblings, Tyler, Katie, and Faith who were lost to NPC. Serina was also our 2019 NNPDF Cora Sterling Endurance Award recipient.

Best wishes to you Serina, and well done! We know you will make a positive difference in your new role.

 

Ashley Lewis

Mom of Linwood, ASMD

Tell us a bit about yourself and your family…
We are the Lewis’s!! We live in beautiful North Carolina, in the town where my husband, Lyn grew up. Tarboro is a small town like you see in the movies, where everyone knows everyone. We love spending time with our family and friends. Family is everything! Linwood is a busy five-year-old. He is in Pre-K and loves it. During the summer Linwood takes swim class, music class and has participated in therapeutic horseback riding. He loves being around his friends, and his cousin Hadley. When we are home Linwood enjoys watching movies with his dog, Major, and his kitten, Kitty Boop. Linwood also enjoys listening to music, especially Allan Jackson and Rudolph the Red Nose Reindeer. Linwood is our only child and is surrounded by so much love, he is the first boy on my side of the family in two generations!

What led to and when did you receive the Niemann-Pick disease diagnosis?
At thirteen months old, in 2017,  Linwood went in for routine surgery, and the anesthesiologist discovered that his liver was enlarged. From there, Linwood was admitted to our local hospital, where he had multiple tests and labs done. From Leukemia to Lymphoma, and then to metabolic diseases, we were faced with many scary possibilities. As the test results came back, and the test being performed became more specific, we began to realize that Linwood had something very rare. The last test he had done was a liver biopsy. We were sent home after this test and were told we would be called with the results. At this point, the diagnosis was a metabolic disease, but it was between a glycogen storage disease and a lipid storage disease. We were told by the doctors that we did not want it to be a lipid storage disease. Linwood received his official diagnosis at fifteen months old, and it was Niemann-Pick type B.

What were the first steps you took after diagnosis?
We received Linwood’s diagnosis by his Pediatric Ophthalmologist during an eye exam. We had previously met with his genetic specialist, Dr. Spence at UNC, and the results of the liver biopsy had not come back yet. When we met with the pediatric ophthalmologist, she noticed the “cherry-red spot” at the back of Linwood’s eyes, which is an indicator of ASMD. So we asked the doctor if that meant Linwood had Niemann-Pick. She checked Linwood’s medical chart, and the results of the Liver biopsy were there, and it confirmed that he did have Niemann-Pick. After his diagnosis, we were informed by Linwood’s genetic specialist, Dr. Spence, that there was a clinical trial in New York and we were instructed to call because Linwood might qualify. We did what he said, and two weeks later we were making travel plans to fly to New York, for the screening process for the trial. After the screening process in February of 2018, we began in the trial two months later, when Linwood was eighteen months old.

How did you learn about NNPDF?
It was not until almost a year after Linwood’s diagnosis that my Stepmom actually invited me to join the NNPDF Facebook page. Up until this point, I honestly was afraid to join any support group or Facebook page, only because I was so afraid I would see something sad or scary. Our world had been turned upside down and we were still adjusting to our new normal. Our emotions were all over the place, and I knew if I saw something sad, that I wouldn’t be able to be strong for my child. Little did I know, NNPDF was exactly what we needed. It has been a blessing.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefitted your family?
After being a member for a while, Laurie Turner reached out to me. She asked if I would be interested in participating in a few projects with the NNPDF. After seeing so many brave families share their stories, and being able to lean on their comforting words, I was so honored to share Linwood’s story.

What impact has Neimann-Pick disease had on your life?
Niemann-Pick Type B/ASMD, has changed our lives. It has honestly opened our eyes to a world that we never knew existed. Prior to Linwood’s diagnosis, we had never heard of it. Even though there have been moments of uncertainty, fear, sadness, and a lot of worries, it has made us appreciate every single day, every single milestone, and every single thing that Linwood brings to our lives. I can honestly say it has made our lives more beautiful because we truly now understand how beautiful life is. I always knew that life was precious, but it wasn’t until we were faced with the unknown that we really understood.

What are your hopes for the future for yourself and for the Niemann-Pick community?
I pray that more research continues for those with Niemann-Pick, and I pray that with that comes more treatment options. I hope that those who are new to the NNPDF community, know that they are not alone, and even though they have their very own journey, they are not alone. I hope that awareness continues and that people get inspired to become involved. This is a wonderful community! Hopes for myself and my family, are that we continue to share our story, and hopefully are able to help others with doing so.

Invisible Manners

NPUK Short Film on Invisible Conditions

NPUK’s latest short film Invisible Manners was developed to raise awareness and understanding of invisible conditions, including the rare group of conditions, Niemann-Pick disease, and the experiences of those affected. The film features voices of community members and friends of the Niemann-Pick UK and INPDA (International Niemann-Pick Disease Alliance) along with professional actors Billy Boyd, Isy Suttie, and Weruche Opia.

This short film was developed in memory of all the beloved Niemann-Pick community members sadly lost over the years, many of whom are featured in the closing section of the film. They are in our hearts always as we continue to fight for a brighter future for those affected by Niemann-Pick disease. Watch the film.

Community Update Webinar Series with IntraBio

Please join us for a webinar featuring IntraBio on Sunday, February 6th, 2022 at 2:00pm EST. IntraBio will be sharing an update on their IB1001-201 clinical trial for NPC.

Speakers include:
Taylor Fields, Chief Product Development Officer
Tatiana Bremova-Ertl, MD, PhD, Department of Neurology, University Hospital Bern

For questions about this event contact NNPDF Family Services Manager, Laurie Turner at familyservices@nnpdf.org. Be sure to check out all NNPDF upcoming events!

Save the Date!

Mark your calendars for July 28-31, 2022 for our 30th Annual NNPDF Family Support & Medical Conference! Join us at the Wyndham Grand in sunny Orlando, Florida as we come together to share, learn and celebrate 30 years of community!

AllStripes NPC Research Program

NNPDF is excited to partner with the Firefly Fund, Niemann-Pick Canada, the Ara Parseghian Medical Research Fund and AllStripes to create a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs. To move this research forward, we are looking for families of 40 sibling pairs with NPC willing to contribute their de-identified medical records.
Learn how you can help.

Truly Global Recognition for Rare Diseases

In our recent LinkedIn article on the remarkable accomplishment of the United Nation’s resolution “Addressing the Challenges of Persons Living with a Rare Disease and Their Families” we call on US regulators to use their regulatory flexibility with rare diseases to ensure that no one is left behind. Read the full piece.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

Thank You to Nicole Pruneau who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support.

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

Family Journey

During our NNPDF Family Support & Medical Conference we were honored to have Niemann-Pick community members share their Niemann-Pick stories with us.

Today we feature Krystal Samuelson, Mom of Willow, sharing her family story of living with NPC. Thank you, Krystal for sharing your personal story with us. Watch Krystal’s family journey.

Clinical Trial Update

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Cyclo Therapeutics:  The following update has been shared with the NNPDF from Cyclo Therapeutics on their TransportNPC trial, which is currently enrolling. Read complete update.

Update from Cyclo Therapeutics:  Cyclo Therapeutics Appoints Caroline Hastings, M.D. as Global Principal Investigator for Ongoing TransportNPC™ Study evaluating Trappsol® Cyclo™ for the treatment of Niemann-Pick Disease. Read full press release.

Community News Updates

Update from Mandos Health:  The following update has been shared with the NNPDF from Mandos Health. Read complete update.

EMA accepts regulatory submission for olipudase alfa:  The European Medicines Agency (EMA) has accepted Sanofi’s regulatory submission for olipudase alfa, the first potential therapy for ASMD. Read complete update.

FDA and Duke-Margolis NPC Workshop:  FDA and Duke-Margolis will host a virtual public workshop on January 24-25, 2022 on endpoint considerations to facilitate drug development for Niemann-Pick Type C. The workshop is open to the public. Learn more and register.

On behalf of the NPC community and in conjunction with partner organizations, NNPDF sent a letter to Dr. Mark Clellan regarding the January 2022 public workshop for endpoints consideration in drug development for Niemann-Pick type C. We are advocating to ensure that our families and expert clinicians voices are heard and incorporated into decision making and outcomes.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!


For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038

Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at lturner@nnpdf.org.

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

       

Supporting one another. Supporting our community.

November 2021 Newsletter

Newsletters

Message from the Executive Director

Dear NNPDF Community,

As we approach the holiday season, this is a perfect time to reflect on the amazing progress our organization and community have made over the past several months. During Niemann-Pick Awareness Month, many families and advocates took the time to share their stories on social media and encourage friends and family to join in the effort to help others learn about Niemann-Pick. We also worked with industry leaders and members of the advocacy community to highlight many important topics related to Niemann-Pick disease, including the impact on patients and families and the critical need to advance research that can lead to a new treatment. We appreciate the efforts of all our board members and community supporters in helping to make an impact during Niemann-Pick Awareness Month.

NNPDF has also been working diligently to expand efforts to raise awareness of Niemann-Pick disease among members of the scientific and medical communities. At the end of October, NNPDF Board Chair Dr. Justin Hopkin and I published an article in Nature Magazine’s Scientific Reports on the impact and burden of acid sphingomyelinase deficiency (ASMD) from a patient and caregiver perspective. This article provides many new insights from patients and families on their experience living with ASMD. In addition to this study, Justin presented information about the impact of Niemann-Pick disease during a special scientific webinar hosted by EveryLife Foundation. We also provided support for the initiation of the AllStripes NPC Sibling Study, a landmark effort to better understand the impact of early diagnosis for patients with NPC. Please see below for additional information and links to these important efforts by NNPDF.

As we head into 2022, we will also be looking at ways to expand our efforts in many critical areas for our community. We will continue our work to stress the importance of patients and families sharing their data and experiences to help shape and guide medical research that can lead to new treatments for Niemann-Pick disease. We will also continue our outreach to regulatory and industry partners to ensure that research continues to reflect the needs and goals of patients and caregivers and that our voices are being heard.

As always, we are here as a partner and ally to all members of the Niemann-Pick community. We extend our sincere appreciation to all of our donors and supporters who are making this work possible.

Happy Holidays to all. We are so thankful for the amazing strength and dedication of our community and our partners and we look forward to continuing our efforts to support research that can lead to a treatment and change the lives of everyone affected by Niemann-Pick disease.

Warm Wishes,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

Niemann-Pick Awareness Month

THANK YOU to our Niemann-Pick community for participating in Niemann-Pick Awareness Month! You shared your stories, promoted our posts, held fundraisers, and continued to spread awareness of Niemann-Pick disease throughout the month of October. Thank you to our donors for supporting our organization. TOGETHER we can make a difference!

Supporting One Another. Supporting Our Community.

Help for the Holidays

Once again, NNPDF is fortunate to share that an anonymous donor has offered to help make the holidays a little brighter for those in need! Our donor family wishes to help ease the burden of Holiday stress while promoting family togetherness and enjoyment by helping with some wish list items for Niemann-Pick families.

NNPDF members residing in the US are eligible to submit an application to be considered for funding for Help for the Holidays. Applications must include a link to your personally created Amazon Wish List (details below).

Application deadline is Sunday, November 28 at 5pm EST

Our donor family has asked the items on your wish list encourage family enjoyment, such as fun family activities, crafts, toys, and games, etc. Wish List items could also be items of urgent need such as winter coats, boots, gloves, etc. Interested families are asked to complete an application which will include a link to a personally created Amazon Wish List. Eligible families will be selected at random and will be notified no later than 12/03/2021 if selected. Wish list items will be shipped to your home via Amazon.

PLEASE NOTE:

Your Amazon Wish List link must be included in your application. Please create one Amazon Wish list for your immediate family members living in your home. Learn how to create your list.

After you’ve created your Amazon Wish List:

  1. Click Send List to Others
  2. Copy your link from the View Only option
  3. Paste your link in the application where requested.

If you have any questions or need application assistance, please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or call 920-542-4038.

Megan McCabe

Boston Children’s Hospital
Clinical Research in the Department of Genetics and Genomics

Tell us about yourself…
My name is Megan McCabe, and I am a Clinical Researcher at Boston Children’s Hospital in the Department of Genetics and Genomics. My research is on the Orphazyme NPC Expanded Access Program, along with some other rare disease clinical trials. I graduated from the University of Notre Dame in May of 2021 with a degree in Neuroscience and Behavior. During my time at Notre Dame, I developed a passion for working with the rare disease community. This included work in both scientific and advocacy areas.

What inspired you to begin working in the field of Niemann-Pick Disease?
My initial inspiration for working in the NPC field began in the fall of my freshman year of college. It was at a Notre Dame football game where I saw a video presented in the stadium during halftime that featured the incredible work Notre Dame does with NPC through the Boler-Parseghian Center for Rare and Neglected Diseases. Dr. Elizabeth Berry-Kravis was mentioned and caught my attention in the video because she was working in my home city Chicago, and also was an alumna of Notre Dame.

I decided to reach out to Dr. Berry-Kravis to see if I could learn more about her work. I ended up meeting her a few months later at Notre Dame’s Rare Disease Day event, and she offered me a position to work with her on a NPC clinical trial that summer. Under her direction, I helped with running clinic visits, prepared data, FDA annual reviews, among other typical clinical coordinator roles. After that summer, Dr. Berry-Kravis connected me with Professor Barb Calhoun, who was involved with Notre Dame’s Boler-Parseghian Center for Rare and Neglected Diseases. I worked with Professor Calhoun during the remainder of my time at Notre Dame. Under Professor Calhoun, I prepared various reports for NORD, created patient clinical summaries and completed other projects related to NPC. I continued to work with Dr. Berry-Kravis for another summer and on all of my breaks home from college. During this time, I also joined the Young Adult Representatives of Rare Disease Legislative Advocates, which is a part of the EveryLife Foundation for Rare Diseases. This is a great outlet for me to focus on advocacy for the NPC community.

How did you come to be involved with NNPDF?
After graduating from Notre Dame, I accepted a position at Boston Children’s Hospital in the Department of Genetics and Genomics. I now coordinate various rare disease clinical trials, one of which is an Expanded Access Program for NPC. It has been wonderful to meet and talk with some of the families on this trial! Aside from attending the NNPDF conference, I was recently connected with NNPDF to discuss the needs of the NPC community, and I look forward to continuing this conversation with them.

What changes have you seen in awareness of NPD in the medical and scientific communities?
In my four years of working with NPC, I have noticed an increase in awareness and communication between various organizations and leading professionals in NPC research. Compared to my work with other diseases, I have never seen a disease community with so much communication and collaboration between patients and their families, advocacy organizations, research organizations, researchers, and clinicians. A great deal of this increased communication can be attributed to organizations such as NNPDF. The patient and family-centered work of the NNPDF is truly unique.

What do you think the future of NPD looks like?
The future of the NPC community is bright, despite the various setbacks that have occurred related to treatment access. In just my four years of working with NPC, I have fortunately noticed a huge increase in awareness of the disease, which seems to be heavily driven by patients and their families. In turn, this awareness has and will continue help research routes and drug access going forward. The passion of especially the patients and families in the NPC community is inspiring. They are truly making a difference for the future of NPC, and I have been so grateful to meet many of these patients and their families.

Save the Date!

Mark your calendars for July 28-31, 2022 for our 30th Annual NNPDF Family Support & Medical Conference! Join us at the Wyndham Grand in sunny Orlando, Florida as we come together to share, learn and celebrate 30 years of community!

Giving Tuesday - 11.30.2021

As Giving Tuesday approaches, please consider a donation to the National Niemann-Pick Disease Foundation. NNPDF supports families facing the challenges of Niemann-Pick disease through support, education, collaboration, and research.

Give at nnpdf.org.
#givingtuesday2021

Coffee & Catching Up

Looking for some connection? Don’t miss out on Coffee & Catching Up weekly zoom meetings allowing time for our community members to come together and chat. Watch our upcoming events page for additional dates and times.

NOVEMBER & DECEMBER DATES:
Tuesday, November 30, 2021 at 11:00am EST
Tuesday, December 14, 2021 at 11:00am EST
Tuesday, December 21, 2021 at 11:00am EST
Tuesday, December 28, 2021 at 11:00am EST
Register here!

If you have any questions please connect with Laurie Turner, Family Services Manager at lturner@nnpdf.org or 920-542-4038.

Newborn Screening Update

Experts Gather for Firefly’s 3rd Annual Newborn Screening Clinical Roundtable

Thirty-five NPC and newborn screening experts from the US, Canada and Europe gathered virtually for Firefly Fund’s 3rd annual NPC Newborn Screening Clinical Roundtable on Friday, November 19. The group met to solidify the role of newborn screening for NPC and on recommendations for intervention following a positive diagnosis at birth.

Observing the meeting were many members from the NPC community and eight industry partners, all with an interest in learning expert opinion on the value of treating earlier in the disease process. Drs. Elizabeth Berry-Kravis of Rush University Medical Center and Marc Patterson of Mayo Clinic chaired the meeting where speakers addressed topics ranging from the current treatment landscape, biomarkers and disease progression to newborn screening research and starting the application to add NPC to the federal government’s recommended list of diseases to screen for at birth. Of particular note, the gathered experts responded to a survey posed at the meeting that found great alignment regarding the meaning of developmental delay in early childhood-onset diseases like NPC. We will be sharing the full results of the survey in the coming months. Stay tuned!

Community Update Webinar Series Recordings

Orphazyme Update on Arimoclomol
In a recent webinar, the Orphazyme team shared an update with the NNPDF community on arimoclomol following their meeting with the FDA. Thank you to Christophe Bourdon, Dan Gallo, JJ McCann, Louise Broge, and Tara Greene for sharing this update. View the recording.

AllStripes NPC Sibling Study Webinar
Want to learn why your family’s participation is important to newborn screening and future NPC research? Review t
he recording of the AllStripes Sibling Study webinar. Thank you to J.P. DeSouza, Shannon O’Rourke, Pam Andrews, and Dr. Liz Berry-Kravis for sharing how the importance of the NPC sibling study is to early detection of Niemann-Pick disease. View the recording.

Learn more about an easy way for your family to contribute to early NPC diagnosis and intervention.

NNPDF In Action

Scientific Reports
Justin Hopkin, NNPDF Board Chair and Joslyn Crowe, NNPDF Executive Director co-authored the recently published article in Scientific Reports titled “Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective”. Take a look!

AP News
NNPDF community members April Clemenza and Sandy Cowie were recently featured in this AP News story, sharing their diagnostic journeys with ASMD. Read their stories.

EveryLife Foundation 13th Annual Rare Disease Scientific Workshop
Justin Hopkin, NNPDF Board Chair speaks on Niemann-Pick Disease Type C Challenges in the Therapeutic Development at EveryLife Foundation’s 13th Annual Rare Disease Scientific Workshop.

Wisconsin Rare Disease Advisory Council
NNPDF recently signed on to a letter in support of the creation of a Rare Disease Advisory Council (RDAC) in the state of Wisconsin. An RDAC gives rare disease community members a unified voice in state government and provides a valuable resource to elected officials on rare disease education and challenges. Currently, only 21 states have RDACs. Read the letter and learn more about this issue.

Shop AmazonSmile

By shopping AmazonSmile this holiday season and designating National Niemann-Pick Disease Foundation as your favorite charity, you can make an impact for Niemann-Pick families. Shop AmazonSmile and Amazon will donate to the NNPDF. It’s easy! Learn more and sign up. You shop. Amazon gives.

Patients Waiting NPC Video

Have you checked this out? We’re loving this video and music about NPC that premiered during Niemann-Pick Awareness Month! We hope you like as much as we do! Check it out!

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

Thank You to the following who have recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support.

Kari Dean  –  Paula Fowler  –  Cara Gilmore  –  Amanda Henderson  –  Chris Milam  –  JoAnn Williamson  –  Patricia Haiber McClees  –  Margaret Owens  –  Rhonda Brown Kehoe  –  MaryLou Dahmen

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

Thank You to NES Super Stream for their recent fundraiser in honor of David & Kelsey Follett’s niece Hannah (NPC). This fundraiser was done via a Facebook gaming charity livestream. Such a fantastic and creative way to host a fundraiser! We truly appreciate your support.

Family Journey

Sandy Cowie, INPDA President shared her personal story of living with ASMD at our NNPDF Family Support & Medical Conference. We are honored to have Sandy share her Niemann-Pick story with us. Watch Sandy’s journey.

Clinical Trial Update

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Orphazyme: Orphazyme has provided NNPDF with a regulatory update following their Type A meeting with FDA on arimoclomol in Niemann-Pick disease type C. Read complete update.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!


For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038

Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at lturner@nnpdf.org.

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

       

Supporting one another. Supporting our community.

September – October 2021 News

Newsletters

Message from the Executive Director

Dear NNPDF Community,

This month, October, is Niemann-Pick Awareness month. One of the most important times of year for us, as a community, to join our voices together to remember those we have lost and unite for a hopeful future for our loved one. As we continue to fight for approved treatments, we have messaging in our social media posts and on our website that can be shared with your friends and family, with your schools, and with influentials in your area. Please check our calendar of event for programming geared to all families, at all stages of the Niemann-Pick journey, throughout the month including educational materials, advocacy actions, community connections “chats”, webinars, a virtual kid’s dance party, and special Facebook frames commemorating Niemann-Pick Awareness month.

Of course, none of our work is possible with the support of our donors. Thank you for helping us best serve Niemann-Pick families across the U.S., and allowing us to provide vital resources that support families and ensure our families that they are not alone in this journey. To support our important work and make an impact, please donate here.

Warm Wishes,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

Niemann-Pick Awareness Month

October is Niemann-Pick Awareness Month! Support One Another and Support Your Community by raising awareness and educating others about Niemann-Pick Disease in your community. Events will be hosted throughout the month – details will be shared when they become available. With your help in spreading awareness, we will make a difference for families at all stages of the Niemann-Pick journey and help us deliver hope!

EVENTS:

  • Coffee & Catching Up – Tuesdays at 11:00am EST
  • A fun and informative evening for the entire family:
    Community Update Webinar Series: Cyclo Therapeutics &
    A Spooky Halloween Music and Comedy Concert for Kids hosted by Cyclo Therapeutics

    Thursday, October 14, 2021
    Kids event starting at 7:00pm EST – Join Here  Zoom Meeting ID: 875 0450 1568
    Webinar starting at 7:05pm EST – Webinar Registration
  • AllStripes NPC Siblings Study WebinarThursday, October 21, 2021 at 7:30pm EST. Register Here
  • Community Connections
    Wednesday, October 13th at 1:00pm EST  Register here
    Thursday, October 28th at 1:00pm EST  Register here

GET INVOLVED!

  • USE the Niemann-Pick Awareness Month Facebook profile frame:
    1. Click the camera on your Facebook profile picture.
    2. Select the “Add Frame” option.
    3. Type NNPDF in the “Choose a Frame” search window.
    4. Select the “NNPDF Niemann-Pick Awareness Month” frame. 
  • SHARE Niemann-Pick awareness posts and videos on your social networks.
  • SUPPORT NNPDF important advocacy, family services, and research programs through donations.
  • SHOP AmazonSmile, designating National Niemann-Pick Disease Foundation as your favorite charity.
  • HOST a NNPDF Facebook fundraiser! It’s easy –  get started here!
  • SHARE our NNPDF Awareness Video!
  • THANK your Niemann-Pick health care workers! Let us know who they are and NNPDF will send them a special Thank You card.
  • DOWNLOAD, print, and share our NNPDF information page with family and friends.
Supporting One Another. Supporting Our Community.

NPC Community Listening Session Summary Report

On August 3rd, another NPC Community Listening Session was held with the FDA. Thank you to our clinician and family speakers who participated. The Summary Report is now available and can be found on our website. We continue our outreach on these urgent topics with the FDA to ensure the patient and Niemann Pick community voice is heard. Read summary report.

NPC Virtual Hill Day

An NPC virtual Capitol Hill Briefing is being organized by the NPC moms in coordination with Rep. Lesko of Arizona and Rep. Sewell of Alabama. The event will take place on October 21st from 11am – 12pm EDT.  The goal of the briefing is to help more Members of Congress better understand NPC, learn about the recent and ongoing challenges we face as a rare disease, and be willing to help.

All families will be able to attend virtually, registration details will follow.

Please invite your member of Congress by contacting us at nnpdf@nnpdf.org.

Liz Heinze appointed as NNPDF Secretary

Congratulations to Liz Heinze on her appointment as NNPDF Secretary! Liz’s contributions to the Niemann-Pick community have been invaluable for families and we are proud to have her on our board.

NNPDF Board Members are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization. They volunteer selflessly to serve in these vitally important roles, giving their time and energy to keep your NNPDF family support organization moving forward. We truly appreciate and THANK each and every one of you for all you do.

Meet Liz Heinze NNPDF Board Secretary. We are grateful to have you on our team!

Save the Date!

Mark your calendars for July 28-31, 2022 for our 30th Annual NNPDF Family Support & Medical Conference! Join us at the Wyndham Grand in sunny Orlando, Florida as we come together to share, learn and celebrate 30 years of community!

Health Care Worker Thank You

Health care workers play an important role in the lives of our Niemann-Pick families and are valued throughout our community. NNPDF is offering to send out Thank You cards to our Niemann-Pick health care workers to let them know they are very important to us. To participate, send us your health care workers information and we will send them a Thank You card on behalf of our Niemann-Pick community.

Family Journey

During our NNPDF Family Support & Medical Conference we were honored to have Niemann-Pick community members share their Niemann-Pick stories with us.

Today we feature Barbara Lazarus as she shares her family story in raising 2 sons, Daniel and David, with NPC. Thank you, Barbara for sharing your heartfelt and personal story with us. Watch Barbara’s family journey.

Medicaid Waivers

In this presentation, Amy Aikins, Director of Government and Social Programs at the Little Hercules Foundation provides an overview of waiver programs, why you might be interested in enrolling your child, how to find out what waiver programs may be available, and tips for those who are already enrolled in a waiver program.

Amy has worked for several years in case management as both line and supervising staff, in program management, and in waiver administration. Thank you, Amy, for sharing this important information with our community.

Watch the recording of Amy’s NNPDF Family Support & Medical Conference presentation.

Circle of Care Guidebook

Being a Caregiver for a child with a rare disease can be both enormously gratifying and extremely challenging. For most, the experience is life-altering, and for some, all-consuming. The Circle of Care Guidebook by National Alliance for Caregiving and Global Genes is intended to help Caregivers navigate through the varied experiences and challenges of rare and serious medical conditions, guided by the insights, achievements, and learnings of other caregivers and experts, including NNPDF Family Services Manager, Laurie Turner.

The Circle of Care Guidebook will help Caregivers more easily navigate through the needs and challenges of caring for children with rare and serious illnesses and find the right next steps to take on their behalf.

Research Study & Survey Opportunities

AllStripes NPC Sibling Survey

AllStripes and NPC foundations are creating an NPC research program. The first study will support efforts to include NPC among conditions recommended for newborn screening.

For this study, we’re looking for families of 40 sibling pairs with NPC to join AllStripes. To participate in future research opportunities like this one, all families affected by NPC can join AllStripes.

View complete details for AllStripes Sibling Survey.

ASMD Accelerate Study

The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

Wylder Nation Foundation has partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

There are two “caregiver” scenarios for enrollment:

1) Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists. 

2) Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease. 

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.

To review the recent ASMD Accelerate Study Webinar click here.

NPC Patient and Caregiver Experience Survey

You are invited to take part in a survey being conducted by Rare Disease Research Partners (RDRP) on behalf of Niemann-Pick UK (NPUK). The survey is entitled “Niemann­ Pick disease type C (NPC) patient and caregiver experience”. We know that NPC has an effect on quality of life for patients and caregivers. The purpose of this survey is to increase understanding of the impacts of NPC of patients and their families and to explore the effects of any treatments received.

The results of this survey may be used by decision makers in Europe and elsewhere, alongside other elements such as effectiveness and safety, when evaluating new medicines.

Before you decide whether to take part, please take time to read the survey information carefully and discuss it with others if you wish.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

Thank You to the following who have recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support.

James Bailey  –  Kay Lee  –  Tammie Sterling  –  Becky McGuire  –  Katherine Davis  –  Vera Stricklin  –  Kendra Harper  –  Raven Davis  –  Tara Pavey  –  Chrys Mount –  Ariel Johnson  –  Cheryl Bujold-Carter

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

Supporting One Another. Supporting Our Community.

Membership Update

We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF. Thank you for your participation.

Click here to enroll today!


For enrollment assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038

Community News Updates

Cyclo Therapeutics Announcement:
Cyclo Therapeutics is pleased to announce the appointment of Lise Lund Kjems, MD, PhD as Chief Medical Officer. Read complete announcement.

NPC Community Listening Session Summary Report:
On August 3rd, another NPC Community Listening Session was held with the FDA. Thank you to our clinician and family speakers who participated. The Summary Report is now available and can be found on our website. We continue our outreach on these urgent topics with the FDA to ensure the patient and Niemann Pick community voice is heard. Read summary report.

Update from Mandos Health:
The following information was shared with NNPDF by Mandos Health and is also available at mandoshealth.com/communications. Read complete update.

Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at lturner@nnpdf.org.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or familyservices@nnpdf.org. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Download and complete the fillable PDF application, and return via email to Laurie Turner at familyservices@nnpdf.org.

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

       

Supporting one another. Supporting our community.

July-August 2021 News

Newsletters

Message from the Executive Director

Dear NNPDF Community,

Summer’s winding down is often a period reflection. Subtle changes in the length of day, extra long sunsets, heatwaves and summer storms, remind us that life is in flux and that change is on the horizon. I am struck by how much has occurred in our Niemann-Pick communities over the past months of summer, reinforcing us that life is indeed a mix of hope, positivity, perseverance, resilience, frustration, and determination.

It was a pleasure to see so many community members at our 29th annual Family Support & Medical Conference this summer. Recordings of the conference sessions are available and can be found here.

Family Services Community Connections groups and Coffee & Catching Up resume in September. Weekly drop-in discussions for all Niemann-Pick community members, caregivers, and supporters are free of charge, all are welcome. Dates and registration information can be found here.

Advocacy remains at the forefront of our work. We are tackling our recent challenges with the FDA head-on. With Niemann-Pick Awareness Month coming in October, now is an opportune time to convey our messages about the need for approvals of Niemann-Pick treatments. NNPDF will continue to provide tools to amplify our voices through story-telling, legislative efforts, family data collection, and treatment-specific advocacy efforts. We always value your feedback and insights into what is most important to your family. If you didn’t have a chance to attend our break-out session How to Communicate Your Message to the Media, you can watch it here at any time.

For families exploring active clinical trial and expanded access program options click below:

We also welcome discussions with NNPDF’s Family Services Manager, Laurie Turner.

NNPDF is proud to announce that our Board Chair, Dr. Justin Hopkin, was awarded Sanofi Genzyme’s TORCH Award this summer. We are thrilled that Justin’s dedication to the Niemann-Pick community and his skillful and determined leadership of the organization was recognized with this honor. In a tribute to Justin on the occasion of his TORCH Award, we have launched a flash fundraiser to support Niemann-Pick Research. Thank you to all who donated so far. We are close to meeting our $10,000 goal to support research through NNPDF Research Fellowships! To help us reach this goal by our September 6th deadline, please consider making a donation in Justin’s honor via Facebook or through our website.

As my reflections on the summer months concludes, it’s a pleasure to receive Milestone notices from our community members. Every birthday, event, graduation, and special moment is worth sharing and recognizing. Keep them coming!

Fondly,



Joslyn Crowe, MSW, MA
NNPDF Executive Director

Supporting One Another. Supporting Our Community.
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NNPDF Family Support & Medical Conference Recap

2021FC banner

Thank you to the over 300 participants who joined us for this year’s virtual conference weekend! Our speakers, breakout session leaders, and family members came together to learn, share, and empower our community.  Our conference was kicked off with a keynote address: The Power of Patient Advocacy by Annie Kennedy, Chief of policy and Advocacy at EveryLife Foundation for Rare Diseases.

We stayed connected through the new NNPDF App, celebrated our Persevere Award and Endurance Award winners, and honored the memory of the loved ones we have lost this year.

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INPDA Biennial Meeting

Following the NNPDF Family Support & Medical Conference, the INPDA held its Biennial meeting to discuss its goals and plans for the coming year. Council members were energized by the connections to one another and the shared commitment to advancing knowledge and treatment of Niemann-Pick diseases.

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Getting to Know Your NNPDF Board

NNPDF Board Members are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization. They volunteer selflessly to serve in these vitally important roles, giving their time and energy to keep your NNPDF family support organization moving forward. We truly appreciate and THANK each and every one of you for all you do.

Meet Cara Gilmore NNPDF Director at Large. We are grateful to have you on our team!

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Message from NNPDF on FDA Meeting

Originally published on 08/05/2021

Pictured above is Alec Koujaian as he prepares to share his statement to the FDA on August 3rd. Thank you for sharing your personal story Alec.

As many of you may are aware, on August 3rd NNPDF together with ARPMF and INPDA held a listening session and discussion with the FDA. In this program, expert clinicians, patients and family speakers shared their perspectives on a range of important issues in the effort to find new treatments for NPC, including patient/caregiver preferences, risk tolerance, and opinions about use of the NPC clinical severity scale as a reliable and meaningful tool in clinical research. Our hope was that the FDA would hear our voices and recognize the critical need to be more flexible in reviewing drugs to treat NPC. You can find a copy of our remarks to the FDA here.

We were extremely frustrated by the FDA’s feedback and responses during the meeting. Despite hearing from many patients and parents that our community is willing to accept certain risks to continue to have access to treatments that are safe and we can see clearly are providing benefit, and despite hearing from both patients and medical experts that only 1 point of change is a meaningful measure of the NPC clinical severity scale, the FDA seems inflexible in considering new approaches in research and regulatory review that are essential to help make sure that a treatment can be available for our community as quickly as possible.

While this news is disappointing, it can and should inspire our community to work together like never before to make our voices heard. Together as organizers of the meeting, NNPDF, APMRF, and INPDA will be sending a written response to the FDA in the coming days with our perceptions of the meeting. This will be shared with the community as well.

Already NNPDF along with many other members of our community are inspired to take action in several ways, including:

  • Contacting our members of Congress to seek that they investigate why the FDA is continuing to ignore the needs of the NPC community and continuing to leave patients with no approved options for treatment.
  • Reaching out to the media to share our stories and to highlight the fact that FDA is ignoring our needs while patients continue to decline.
  • Being more active on social media to encourage more people – especially the entire rare disease community – to join in this important effort.

We are not giving up the fight, but we need everyone’s support to win this battle for NPC patients and families here and all around the world. Let’s unite to make our voices heard and let the FDA know that they can and must take the steps we have outlined to bring available treatments to patients who desperately need them.

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Emily McGlocklin

Sister to Marian, NPC.

Tell us a bit about yourself, such as how old you are and what do you enjoy doing.
I’m Emily, I’m 8 years old, and I love gymnastics and ballet.

How old were you when you learned that Marian had Niemann Pick? What did you think? Did you have any questions?
I was four years old. I remember a lady coming over to draw my blood to see if I had Niemann-Pick Type C too, and I hated it. My mom said that I asked, “why can’t Marian walk,” and she said, “because she’s a baby,” and I said, “well this person is younger than Marian and she can walk.” I don’t really remember when I was told that Marian had NPC or if I had any questions. When Marian started getting treatment, I woke up when I thought Marian was here or mom or dad were here, but then I’d remember one of them was taking her to get her treatment, and I didn’t understand why she needed it. But after a while I kind of got used to it.

How do you talk to your friends about Niemann-Pick?
Well I never really did talk to them about it. Not that I wanted to hide it or anything, but they never asked about it. But then a little while ago my friend at school came up to me and said, “I know your sister has a disease.” I didn’t really say anything back, because I was distracted by other things, but I was thinking, “didn’t you always know that?” If my friends did ask me, I would explain to them NPC is a rare disease my sister has because she was born with it. It makes her need to work harder for it than other people need to, to use her body and brain.

Is there anything that you know about Niemann-Pick that would be helpful for other older siblings?
I would say to them, don’t worry, people will help. There are people who have been studying in this field for years, and they know what it’s like. You can ask anybody for help, people who have little siblings with NPC, and you can ask your parents. You can ask your parents why it just happened to them and not you. I always treat Marian like a sister who doesn’t have Niemann-Pick Type C – I never treat her like she always needs help, we do all the normal things sisters do, fight with each other and then make up having cookies. Whenever we drink milk, we would have silly mustaches and then say, “you have a milk mustache!” And then May May would say awful jokes, like, “how do cows say, moo” and then she says, “moo.”

Are there any programs that NNPDF could create that would be great for your age group?
Getting to know other people that have had sisters and brothers that have had NPC, and just get to ask those people “how did you handle it?” And that might be the same for you. The rules are always that the older people get to help, but the truth is, that people don’t think about the kids who are younger can do stuff. They have stronger relationships but people think they can’t help because they’re younger, but they still know a lot about it. They can help because it’s not just the older people that can help with stuff. I can help, too.

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How to Communicate

Your Message to the Media

In this highly insightful presentation, Bill Berry, Principal at Berry & Company, shares his experience and expertise in how to communicate your story with various media outlets, letting them know that they SHOULD cover your stories on the very important issue of Niemann-Pick disease.

Bill has work in public relations for more than 30 years and has represented many of the lead companies in medical devices, pharma, biotech, and has provided communication support for more than 200 clinical research programs. Bill has also managed public relations for advocacy organizations, industry, and many families who have shared their rare diseases stories.

Bill shares “The most compelling stories about diseases are always delivered by people who have a personal experience – a family member or patients themselves – and it’s the way to get most people to understand your issue and maybe even to do some work for you, figuring out what we want them to do, how we want them to help us.”

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Justin Hopkin Receives TORCH Award

Dr. Justin Hopkin, NNPDF’s Board Chair was honored with Sanofi Genzyme’s annual TORCH Award on Thursday, August 26th. Justin has been a champion in representing and advancing the needs of the entire Niemann-Pick community. He has gone above and beyond while facing his own personal experiences and challenges with his son Garrett (ASMD). It is his compassion, dedication, determination, and commitment to the entire Niemann-Pick community that we are honored to have him advocating for our cause.

Sanofi Genzyme’s TORCH Award recognizes someone who has made a significant contribution to either a Lysosomal Storage Disease community or to a Sanofi Genzyme research and development area of focus to educate, empower, advance, or connect patients.

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In honor of Justin receiving the TORCH Award, we aim to raise $10,000 by September 6th for Niemann-Pick research.  We are nearly there, with only $2,500 to go! Donate via our website or through our Facebook fundraiser.

Please share this fundraiser on your own social media and use #HopkinTorchesNPD #nnpdf and tag us at @NNPDF.

If you have donated, THANK YOU! If you can’t donate or already have, please consider sharing this fundraiser with others to spread awareness of Niemann-Pick Disease and all the great work accomplished by our Board Chair Justin Hopkin! He has led us in so many ways and we want to honor him the best way we know how!

With your support, we will continue to work towards Niemann-Pick disease treatments!

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Milestones

Bradley Kliemann, 23, ASMD, recently graduated Magna Cum Laude from Northern Arizona University with a Bachelor of Science degree in Parks & Recreation Management and a minor in Geographic Information Systems. He is currently completing his final internship with Colorado Parks & Wildlife and has plans for a career as a Park Ranger with the National Park Service. Bradley is the son of Dr. Jacqueline Kliemann and James Kliemann and brother of Melissa Kliemann, Esq.
Congratulations, Bradley!

Have a special milestone to share? Send us the details to familyservices@nnpdf.org and we’ll publish it in an upcoming Newsletter!

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Community Connections and Coffee & Catching Up are back!

Please join us as we connect and support one another virtually. Join us Tuesdays at 11am EST for Coffee & Catching Up.  We are also hosting Community connections – at various times throughout the fall- see September schedule.  Join us as we connect, share and support one another. Click here for registration.

Questions? Please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 920-542-4038.

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NPC Patient and Caregiver Experience Survey

You are invited to take part in a survey being conducted by Rare Disease Research Partners (RDRP) on behalf of Niemann-Pick UK (NPUK). The survey is entitled “Niemann­ Pick disease type C (NPC) patient and caregiver experience”. We know that NPC has an effect on quality of life for patients and caregivers. The purpose of this survey is to increase understanding of the impacts of NPC of patients and their families and to explore the effects of any treatments received.

The results of this survey may be used by decision makers in Europe and elsewhere, alongside other elements such as effectiveness and safety, when evaluating new medicines.

Before you decide whether to take part, please take time to read the survey information carefully and discuss it with others if you wish.

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Taking the Lead with ASMD:
Navigating the Healthcare System

Please join Sanofi Genzyme at their educational event Taking the Lead with ASMD: Navigating the Healthcare System taking place on September 14th or 16th.

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AllStripes NPC Sibling Survey

AllStripes and NPC foundations are creating an NPC research program. The first study will support efforts to include NPC among conditions recommended for newborn screening. For this study, we’re looking for families of 40 sibling pairs with NPC. Join other NPC patients and families on AllStripes to contribute to multiple research efforts.

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Family Journey

During our NNPDF Family Support & Medical Conference we were honored to have Niemann-Pick community members share their Niemann-Pick stories with us.

Today we feature Ashley Lewis as she shares about Linwood’s journey with ASMD. Thank you, Ashley for sharing your heartfelt and personal story with us. Watch Ashley’s family journey.

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Membership Update

We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF. Thank you for your participation.

Click Here To Enroll Today!

For enrollment assistance contact Laurie at familyservices@nnpdf.org or call 603-413-8707

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ASMD Accelerate Study

The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

Wylder Nation Foundation has partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

There are two “caregiver” scenarios for enrollment:

1) Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists.

2) Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease.

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.

To review the recent ASMD Accelerate Study Webinar click here.

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Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Orphazyme:
Orphazyme has announced the publication of its results from the Phase 2/3 trial of arimoclomol in Niemann-Pick disease type C in the Journal of Inherited Metabolic Disease. Read more.

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Community News Update

Update from IntraBio:
IntraBio reports statistically significant and clinically meaningful improvements in the use of IB1001 for treatment of GM2 Gangliosidosi. Multinational clinical trial is the first successful clinical trial for GM2 Gangliosidosis, favorable safety and efficacy data consistent with previously announced IB1001 clinical trial results for NPC. Read more.

Announcement from Mandos LLC:
We’ve received the following information on Mandos LLC’s acquisition of Adrabetadex. Read here.

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Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at lturner@nnpdf.org.

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Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or familyservices@nnpdf.org. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Download and complete the fillable PDF application, and return via email to Laurie Turner at familyservices@nnpdf.org.

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

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Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

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Fundraising & Awareness Opportunities

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease. Click here to view current and past fundraising and awareness events.

Have you recently hosted an NNPDF fundraiser?

Send us your photos and we’ll share them and details from your event in upcoming newsletters!

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Supporting one another. Supporting our community.

June 2021 News

Newsletters

Message from the Executive Director


Dear NNPDF Community,

US families have faced several challenges over the past few months in NPC. Uncertainly over the sale of adrabetadex to Mandos LLC loomed in bankruptcy court, access barriers placed on its US expanded access program, and the recent FDA decision of a Complete Response Letter for Arimoclomol have made our families’ voices more important than ever. In early April, NNPDF held an FDA-requested Listening Session on Niemann-Pick disease. In one short hour, our leadership, including clinical leaders and patient-experts, conveyed the breadth of challenges that we are facing as an ultra-rare disease and voiced our unwavering support for all the experimental therapies in our pipeline. We stressed the urgency of access to safe and effective therapies for our patients now – a reminder to the FDA that our patients don’t have the luxury of waiting years more for an approved treatment in the US. Following this event, petitions have been signed in support of specific therapies, letters have been sent to FDA members, and NNPDF formed its new Advocacy Committee. As the national patient organization, we continue our steadfast support for Niemann-Pick families’ ultimate goal of having FDA-approved treatments in the US.

Next month we will hold our NNPDF Family Support & Medical Conference, taking place as a virtual conference event. We anticipate over 300 diagnosed individuals, family members, researchers, clinicians, and pharmaceutical industry participants will come together for the weekend-long interactive events consisting of clinical and research updates as well as our family support break-out sessions.

The events are free for families and for medical & research professionals making it a great opportunity to take advantage of the online format to learn about the latest news in Niemann-Pick disease. Conference events take place July 29th – 31st, followed by the INPDA Biennial Meeting on Sunday, August 1st. To register for these events, go to nnpdfconf.org.

Our Family Services programs are busier than ever, offering forums for families to connect and share. This spring we launched our Navigating Together program which provided small-group support sessions for bereavement and loss. Sessions were no-cost to family members, required an 8-week commitment, and were led by a trained counselor.

We are also pleased to announce the launch of a new scholarship – the Joele Ruppert and Joseph Colton ASMD Scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions. The Scholarship fund began in August 2020 when Evren Ayik, at that time a graduating high school senior, was awarded the Sanofi Genzyme TORCH Award for his work in advocacy for individuals and families affected by ASMD. The NNPDF, in gracious acknowledgement of Evren’s wishes to endow a scholarship for other students with ASMD, supported his proposal for the financial contribution that is offered to the TORCH Award recipient’s chosen non-profit organization serving the rare disease community. Learn more.

It’s been uplifting to see the unity amongst families throughout the country over the past few months at a time when we need to support one another and rely on another the most. The NNPDF Board and Staff are here for your needs at any time in the Niemann-Pick experience helping to guide and lead and providing support, assistance, education, and more. We are always one click or phone call away.

Warm Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Supporting One Another. Supporting Our Community.

Make a Gift

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Conference Information & Registration: nnpdfconf.org

Be sure to register for our virtual conference event with live interactive sessions, important advocacy and FDA updates, our Celebration of Hope video tribute, family break-out sessions, and more. We are pleased to announce Annie Kennedy, Chief of Policy and Advocacy at EveryLife Foundation for Rare Disease sharing our Keynote Address.

NNPDF Family Advisory Working Groups will take place on Thursday, July 29th, before the start of the conference.

Connect with NNPDF families, expert clinicians, researchers, and other community partners throughout the conference events. Download the NNPDF app for connecting, updates, info, contests, and more!

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NNPDF Welcomes New Board Members

We are proud to welcome the following incoming Board Members to the NNPDF team: Cara Gilmore, Mary Frances Harmon, and Kari Lato. Learn more about them.

 

 

 

 

 

 

 

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Thank You, Missy Ward

Our heartfelt THANK YOU goes out to Missy Ward as her term as NNPDF Board Member and Secretary comes to a close. Your dedication and service to the National Niemann-Pick Disease Foundation and the many families it supports has been extraordinary.

Missy and her husband Jim played an essential role in the planning and building of our family conference Activity Zone. This program would not be what it is today without them. Missy, Jim, as well as their dear friend Andy Schroeder, have been the heart of our Activity Zone and tirelessly work with dedication and unrelenting commitment to make the Activity Zone a fun and safe place for our families. We can’t thank you enough for all you do and thank you for your service to our community.

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New Advocacy Committee

NNPDF is forming a new Advocacy Committee for community members who want to directly help with input and planning of advocacy initiatives. Your voice is important to getting our message out that our Niemann-Pick community needs approved medicines now. Contact nnpdf@nnpdf.org to get involved!

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Membership Update

We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF. Thank you for your participation.

Click Here to Enroll Today

For enrollment assistance contact Laurie at familyservices@nnpdf.org or call 603-413-8707.

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Joele Ruppert & Joseph Colton ASMD Scholarship

Joele Ruppert and Joseph Colton are a much-loved daughter and son, both diagnosed with ASMD, whose parents, Jeff and Kara Ruppert and James and Alexandra Colton, demonstrated compassion, courage, selflessness, and perseverance from the beginning to the end of their children’s journeys. The words and deeds of these two families proved inspirational to another family of a child diagnosed with ASMD, and indeed, to all who knew Joele and Joseph. This scholarship is in honor of the lives of these two cherished children and their parents who embodied the highest values of the human spirit.

The Joele Ruppert and Joseph Colton ASMD Scholarship fund began in August 2020 when Evren Ayik, at that time a graduating high school senior, was awarded the Sanofi Genzyme TORCH Award for his work in advocacy for individuals and families affected by ASMD. The NNPDF, in gracious acknowledgement of Evren’s wishes to endow a scholarship for other students with ASMD, supported his proposal for the financial contribution that is offered to the TORCH Award recipient’s chosen non-profit organization serving the rare disease community. In naming the scholarship, Evren recognized that many years earlier, he and his own family were also encouraged and inspired by the Ruppert and Colton families, and he wished to honor both of the children who lived with ASMD, Joele and Joseph, and their respective parents, all of whom are exceptional people.

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Milestones

JP Honsinger was diagnosed in 5th grade with NPC. On June 25th he graduated from high school with his class of 800 students! JP will attend the Adult Transition program in the fall for the next three years. Congratulations JP!

 

 

 

Kaila Guy, ASMD, was the Xcel Platinum Florida state gymnastics champion on Floor and came in 2nd in the all around. Kaila qualified for regionals in Atlanta, and placed 3rd on floor and in the all around. Congratulations Kaila!

 

 

 

 

Have a special milestone to share? Send us the details to familyservices@nnpdf.org and we’ll publish it in an upcoming Newsletter!

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INPDR Update

Following a review of our Clinician Reported Database involved clinicians, researchers, industry representatives, the INPDR are pleased to report that we have completed the NPC database amendment with ASMD to follow soon after. The new database will be rolled out over the coming weeks to our 18 existing sites and will now include data on adverse events and co-morbidity. There are a further 47 sites that are currently in the pipeline for onboarding to the INPDR with the potential to capture data for more than 1000 patients internationally. While onboarding and recruitment has been impacted by the COVID pandemic, the registry has made important changes to accelerate recruitment. This includes facilitating postal consent so patients and families do not need to attend clinic to decide to take part in the CRD. The registry has also translated our documents into ten languages which addresses another significant barrier to registry recruitment.

Last month the registry reported progress on its Patient Reported Database review which will be extended to include a broader suite of information including quality of life, carer experience and unmet needs. We recently shared our draft questionnaires at a focus group of NPC and ASMD families to seek their input on appropriateness and acceptability. We received positive and constructive feedback and are incorporating these changes into the database review. Several important themes arose from these sessions including the provision of feedback to families who take the time to participate in the patient reported database. The INPDR will look forward to liaising with the NPD community to further consider how best to address this important question. The INPDR wish to thank all of the focus group participants for taking them time to provide their thoughtful and considered input.

The INPDR will be taking part in the forthcoming INPDA and NNPDF Meetings over the coming weeks where we look forward to providing more updates on registry progress and particularly on the patient reported database review and how the data will be used to support advocacy and research.

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ASMD Market Research Opportunity

NNPDF has been asked to share the following ASMD market research interview opportunity. Evidera is seeking to conduct phone interviews with adults with ASMD to better understand the ASMD journey.

Description of study: This ASMD adult patient study involves developing health state vignettes that describe living with ASMD. Evidera hopes to speak with adults living with ASMD (consultants) to ensure these health state vignettes accurately reflect the patient experience.

Time commitment for each consultant: The telephone interview would last approximately 60 – 90 minutes. In some cases, Evidera may request to speak with consultants a second time after revising the health states based on their feedback. Evidera typically contract consultants for up to 3 hours to ensure their time is covered.

Payment for consultants: All consultants would be reimbursed at a rate of $100/hour (up to three hours) for their time and consultation.

Next steps: If you are interested in learning more about this market research opportunity for adults living with ASMD, please email Laurie Turner, Family Services Manager at lturner@nnpdf.org.

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ASMD Accelerate Study

The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

Wylder Nation Foundation has partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

There are two “caregiver” scenarios for enrollment:

  1. Those who are currently on the medical journey and caring for a child with NPA or NPA/B For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists.
  2. Those whose child has unfortunately passed away from NPA or NPA/B For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease.

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.

To review the recent ASMD Accelerate Study Webinar click here.

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Newborn Screening Research Study

NNPDF, APRMF, NPCanada and Firefly Fund Seek Your Participation in a first-of-its-kind Newborn Screening Research Study

NPC community foundations in the US and Canada are partnering with AllStripes to create a research database that will power multiple NPC research studies and we need YOUR help to get the first important sibling study underway. This first research project with AllStripes, referred to as the sibling study, will focus on the question of whether early diagnosis and intervention for NPC result in better health outcomes and quality of life for patients. Results from this study may be used to seek a nomination for NPC to be added to newborn screening lists across the country, including the federal Recommended Uniform Screening Panel (RUSP).

We need NPC caregivers in the US, Canada and the UK that are willing to sign-on, sign-up, register, and consent to research for this important study.  It will take you less than ten minutes and all data shared with researchers is de-identified, or anonymized. No identifying information is shared.

The sign-up process is EASY and fast. One parent can sign-up multiple children under his/her account. Go to: allstripes.com/NPC

Important Notes:

  • Presently, the research can only include patients living in the US, Canada, and the UK.
  • Caregivers must consent to research, complete the HIPAA waiver and list at least one facility where the patient has received care.
  • Patients own their data and parents will have access to their child/children’s records in a secure portal.
  • There is NO cost to participate.
Questions?  Contact Joslyn Crowe, NNPDF Executive Director: jcrowe@nnpdf.org

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Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Updates from Orphazyme:

Orphazyme presented 36-month data supporting durable response to arimoclomol during Parseghian Scientific Conference for NPC research. READ MORE.

Orphazyme message to the NPC Community: “Orphazyme has just announced and is deeply disappointed to share that we have received a Complete Response Letter (CRL) from the U.S. Food and Drug Administration (FDA) following its review of the new drug application for arimoclomol for the treatment of NPC. READ MORE.

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Community News Update

Adrabetadex Update: The sale of the Adrabetadex asset to Mandos LLC has been approved by the bankruptcy court. When more details are made available we will be sure to share them with the community in the upcoming days. Read more.

Letter from the FDA for the NPC community: We have received the following letter from the FDA for the Niemann-Pick type C community regarding expanded access to adrabetadex. Please contact familyservices@nnpdf.org with any questions or comments. Read more.

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Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at lturner@nnpdf.org.

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Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or familyservices@nnpdf.org. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Download and complete the fillable PDF application, and return via email to Laurie Turner at familyservices@nnpdf.org.

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

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Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

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Fundraising & Awareness Opportunities

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease. Click here to view current and past fundraising and awareness events.

Have you recently hosted an NNPDF fundraiser?

Send us your photos and we’ll share them and details from your event in upcoming newsletters!

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Supporting one another. Supporting our community.

May 2021

Newsletters

Message from the Executive Director

Dear NNPDF Community,

As a rare disease community, we are stronger together. Recently we have seen the impact that our collective voices and collaboration can make: From working in unison with community partners on a global scale as active members of the International Niemann-Pick disease Alliance (INDPA), through NNPDF’s role on the NPC Accelerator, to ensuring the patient voice is represented in dialogue with regulatory agencies, partnering with the NPC Moms grassroots advocacy mobilizations, or to uniting the ASMD patient voice around the need for a managed access program, we have recently seen progress on several fronts.

Thank you again to the families and clinicians who spoke at our Niemann-Pick Listening Session with the FDA in April. This important meeting highlighted our community’s concerns across the nation and set the stage for ongoing advocacy needs. We know there is so much interest in the regulatory process right now and we are consistently working with our pharma partners to ensure patient voices are heard in their regulatory interactions. With arimoclomol’s PDUFA date in June, it is possible that there could be a first approval for NPC, as well as positive progress in our pipeline from Cyclo Therapeutics, IntraBio, and Sanofi Genzyme. The news of a potential sale of the adrabetadex asset to Mandos LLC settles some of the uncertainty was have faced. We have reached out to the leadership at Mandos, and although they cannot engage in dialogue until the acquisition is complete, we are sure that meaningful and collaborative discussions will follow.

The progress we are experiencing towards an approved treatment for Niemann-Pick disease would not be possible without research. Thanks to our community’s commitment, NNPDF has raised over $5 million towards Niemann-Pick research over the years and supported programs that have led to critical discoveries. We are proud to continue to support Research Fellowships in ASMD and NPC in meaningful ways. Presentations from our current NNPDF Research Fellows will take place on Saturday, July 31st as part of our Family Support & Medical Conference. Registration is now open (and complimentary for families!)

We look forward to seeing everyone, although virtually, at our Family Support & Medical Conference this July 29th – August 1st . Our interactive weekend will bring the latest news and updates and also reunite us in our shared goals. A networking zoom link will be available all weekend for families to connect and talk with one another, our siblings leadership group will continue to grow, and of course, our Activity Zone will be open for children and filled with wonderful programming lead by an amazing team of volunteers.

Until then, as always, we are here for you.

Best Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Cora Sterling Endurance Award Nominations

Join us for a special virtual conference event with live interactive sessions, important advocacy and FDA updates, our Celebration of Hope video tribute, family break-out sessions, and more. NNPDF Family Advisory Working Groups will take place on Thursday, July 29th, before the start of the conference.

Register by June 15th to receive your FREE conference t-shirt with EARLY BIRD registration (US registrants only).

Connect with NNPDF families, expert clinicians, researchers, and other community partners throughout the conference events. Download the NNPDF app for connecting, updates, info, contests, and more!

Conference Information & registration nnpdfconf.org

Deadline for nominations is May 31st. Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community. Click here for nomination information.

Newborn Screening Update

This month, May 2021, for the very first time ever, a newborn was screened for Niemann-Pick Type C. ScreenPlus, a newborn screening pilot study taking place in New York state, enrolled its first neonate this month. The historic study includes NPC among about a dozen other rare disorders on its screening panel. It is the largest multi-disorder, consented, newborn screening pilot program in the US.

What is the significance?

A report from the 2020 census found that there were 3.6 million births in the US last year. That means that as many as 36 families gave birth to a beautiful baby who might also – completely unbeknownst to them – have NPC. That means they will likely experience the same grueling diagnostic odyssey that many families have traveled while trying to unravel various medical mysteries.  ScreenPlus is a chance to reverse this at long last.  Knowing sooner provides a chance to intervene sooner and help these babies live longer and healthier lives.

Please see Firefly Fund’s release for more information about this important milestone for the NPC Newborn Screening Initiative.

In the Spotlight

Dr. Caroline Hastings, MD

Fellowship Director, Pediatric Hematology Oncology, Children’s Hospital & Research Center Oakland
NNPDF Scientific Advisory Board

What inspired you to begin working in the field of NPD?
In my clinical pediatric hematology and oncology practice, I provide consultations for patients with enlarged livers or spleens, sometimes with abnormal blood counts, who are referred due to concern for cancer or a blood disease.  A number of these patients ultimately were diagnosed with an assortment of metabolic diseases.  In 2007, I met the Hemple twin girls, Addie and Cassie, referred for assessment of identically enlarged spleens, and through a series of evaluations diagnosed them with Niemann-Pick Type C.  I had only heard of this in medical school and realized at this time that no significant advances had yet been made in treating this disease.  The family asked me to take a risk with them and put together a team to actively investigate options for treatment  (at that time there was very little animal data).  This was the beginning of a long story and the patient use and investigation of a novel therapeutic, hydroxy-propyl-beta-cyclodextrin.

How did you come to be involved w NNPDF?
I became involved with the NNPDF as a result of my involvement with patients and families nationally.  Indeed, I first connected with the NNPDF in 2007, shortly after diagnosing my first patients, in search of potential ideas and interventions as well as a means to provide support for the families.  This is also the optimal forum to share ideas and latest discoveries and I was invited to present our earliest outcomes with cyclodextrins.

What do you enjoy most about your professional role and your volunteer role with NNPDF?
I absolutely love seeing patients and families and helping them understand how the disease is impacting their lives.  I always try to find some way to make life better for them and to instill hope for the future.  It is also such an honor to be at the meeting and meet with families from all over the country, as well as internationally, and hear their stories.  They are inspirational and renew my energy and hope in our work together.

What changes have you seen in awareness of NPD in the medical and scientific communities?
This community of patients and families are very engaged and supportive of one another, and the NNPDF has provided the resources to ensure high quality information as well as physical, emotional and financial support.  Very few foundations have been as successful as the NNPDF in creating a format for patients/families and scientists/clinicians to engage with one another and with the opportunity to share experiences and discoveries.  Only 15 years ago it was difficult, if not impossible, for patients and families to be truly informed of the nature of the disease as well as potential treatments.  NNPDF has changed that and is actively addressing the needs of patients and families, and ultimately instilling hope.

What do you think the future of NPD looks like?
I think the future looks amazing!  We have learned so much about NPD in the last decade and many researchers and pharmaceuticals are utilizing this new knowledge to develop creative therapies.  It is likely that the next decade will bring many more options for treatment as well as fine tuning current therapies and tailoring them for the individual patient.  Patients with NPC may ultimately benefit from multiple interventions to lessen the severity of the disease, improve quality of life, and quite possibly cure the disease.  Increased awareness of the disease and newborn screening will be critical as therapies improve, to be utilized earlier in life and prevent the devastating consequences.

Cyclo Therapeutics Welcomes Lori McKenna Gorski, Global Head of Patient Advocacy

My name is Lori McKenna Gorski and I am delighted to have joined Cyclo Therapeutics to oversee Patient Advocacy and Engagement. Most of my career has been focused on working in biotechnology, and particularly in rare diseases. I spent many years at Genzyme (now Sanofi Genzyme) in roles in both communications and patient advocacy, including on the Niemann-Pick B/ASMD program. I got to know your global community before the clinical trial commenced, and through such disease awareness programs like Expression of Hope.

Our team is working tirelessly to soon begin enrollment of our Phase 3 study in NPC, beginning with several sites within the United States. This pivotal study is evaluating Trappsol® Cyclo™, a proprietary formulation of hydroxypropyl beta cyclodextrin, used intravenously, for the treatment of NPC. If you have questions about this study, you can find more information here. As we’ve shared with you before, those who have previously been treated with hydroxypropyl beta cyclodextrin (including through intrathecal administration) are not eligible for this particular study. However, you may access our investigational therapy through individual INDs beginning in August, and your physician may reach out to us for more information. We are looking forward to learning more about NPC through these clinical efforts, and as always, through our engagement with you.

While I have previous experience with the Niemann-Pick Community and with lysosomal storage disorders, I know I have much more to understand about the community today. I am looking to speak with a few patient families across the country who would agree to share their stories with me. I am most interested in learning about the path to diagnosis, how NPC affects your family and about your ambitions and hopes for the future. My goal is to eventually share these stories with the entire Cylco team, and externally to help increase general awareness and understanding of this disease. I know just a few stories cannot entirely capture the unique journeys and experiences within NPC families, and I am eager to continue our learning in other ways in the months ahead. If you would not want your story to be shared broadly, I understand and will keep our conversations confidential.

If you’d be willing to connect, I ask that you send an email directly to me at lori.gorski@cyclodex.com. From there, we can set up a time to speak by phone. After we speak, I will share a draft of your story with you to be sure you are comfortable with what we captured. In a perfect world, I’d love to come and meet with you in person, but those plans must remain on hold for now as we continue vaccinations to prevent the spread of COVID.

Thank you for the opportunity to learn more about NPC, your individual journeys and how Cyclo may best support you in the future. I am grateful to each of you, and to the devoted leaders of the NPC patient organizations for your collaboration and guidance.

Lori McKenna Gorski,
Global Head of Patient Advocacy

Membership Update

We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF. Thank you for your participation.

For enrollment assistance contact Laurie at familyservices@nnpdf.org or call 603-413-8707

Clinical Trial Update

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Sanofi Genzyme:
Sanofi Genzyme has shared an update about the managed access program (MAP) cohort for olipudase alfa in the United States for certain patients with ASMD. Click here for complete announcement.

Community News Updates

Mallinckrodt Pharmaceuticals has reached an agreement to divest and transfer the Investigational New Drug (IND) application for experimental drug adrabetadex (VTS-270) to Mandos, LLC. Click here for complete announcement.

Cyclo Therapeutics is pleased to announce the appointment of Lori McKenna Gorski as Global Head of Patient Advocacy. Click here for complete announcement.

ASMD Accelerate Study

The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

Wylder Nation Foundation has partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

There are two “caregiver” scenarios for enrollment:

1) Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists. 

2) Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease. 

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.

To review the recent ASMD Accelerate Study Webinar click here.

Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at lturner@nnpdf.org.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or familyservices@nnpdf.org. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Download and complete fillable PDF application, and return via email to Laurie Turner at familyservices@nnpdf.org.

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.
 

Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

Fundraising & Awareness Opportunities

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick disease. Click here to view current and past fundraising and awareness events.

Have you recently hosted an NNPDF fundraiser?

Send us your photos and we’ll share them and details from your event in upcoming newsletters!

Supporting one another. Supporting our community.