September 2020

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September is Newborn Screening Awareness Month

In recognition of Newborn Screening Awareness Month we are sharing the Firefly Fund’s September Firefly Chat, which is sharing a recent discussion from the recent World Orphan Drug Congress from August, 2020. You can click here to listen. The panel discussion features speakers Pam Andrews, Executive Director of Firefly Fund ; Pat Furlong, with Parent Project Muscular Dystrophy; Emily Fields of Bluebird Bio; Dean Suhr, of the MLD Foundation; and Dr. Melissa Wasserstein, from Montefiore Medical Center. The panelists were moderated by Allison May Rosen of 3D Communications. Happy Newborn Screening Awareness Month!

October is 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.

In the month of October, GET INVOLVED BY:
  • Sharing the NNPDF Awareness Video (Coming soon!)
  • Using our 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. 
  • Sharing our Niemann-Pick Quick Facts on your social networks
  • Supporting NNPDF important advocacy, family services, and research programs through donations

Supporting One Another. Supporting Our Community.

Community News Updates

National Institutes of Health: Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease. NIH observational study suggests that the drug may decrease risk of pneumonia and death in this population. Click here for complete article.

Edenbridge Pharmaceuticals announces the launch of its miglustat 100mg capsules. Click here for complete announcement.

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 Cyclo Therapeutics:

  • Cyclo Therapeutics to present at 2020 Annual Conference for NPC Patients, Families, and Health Professionals in the United Kingdom.
  • Cyclo Therapeutics Inc. Announces Additional Efficacy Data from its Ongoing Phase I/II Trial using Trappsol® Cyclo™ Intravenously to Treat Patients with Niemann-Pick disease Type C1 (NPC1).
  • Cyclo Therapeutics Closes $2.8 Million Private Placement led by Novit LP with $1.0 Million.

CLICK HERE for complete information on above latest news.

Update from IntraBio: IntraBio reports positive data from IB1001 Multinational Clinical Trial for the treatment of Niemann-Pick disease Type C. CLICK HERE for complete latest news.

Update from Mallinckrodt Pharmaceuticals: Mallinckrodt Update to the NPC Community on Adrabetadex: Dr. Steve Romano, Mallinckrodt’s Executive Vice President and Chief Scientific Officer, has prepared the following video for the NPC community. CLICK HERE for complete latest news.

Update from Orphazyme: Orphazyme announces U.S. FDA acceptance and priority of new drug application for arimoclomol for Niemann-Pick disease type C. CLICK HERE for complete latest news.

Becky McGuire, NNPDF Vice Chair

We are pleased to announce Becky McGuire as NNPDF Board Chair. Becky’s cousin, Kelly Thompson, was diagnosed in 2005 with NPC1. She has been an advocate for Kelly, learning as much as she can about the disease while helping her family through a very harsh reality of this awful disease.

Becky shares: “I am looking forward to continuing the transparent work of the board and supporting the foundation and community in its communications and marketing efforts. NNPDF has made incredible progress over the past few years and I am eager to help the foundation in any capacity. From fundraising efforts, awareness and communications, we are all in this journey together and know that it is an honor for me to serve our community.”

Congratulations Becky! We look forward to your support in working with the NNPDF team!

Research Fellowships

Congratulations to our 2020-2021 NNPDF Research Fellowship Award recipients!

Gita Naseri, PhD
Edward H. Schuchman ASMD Research Fellowship Recipient

Project Title:  “In celluluo characterization of small molecule activators of acid sphingomyelinase”
Sponsoring Institution: Humboldt University of Berlin (Germany)

Steven Erwood
Peter G. Pentchev NPC Research Fellowship Recipient

Project Title: “Generation of humanized mouse models for Niemann Pick disease Type C”
Sponsoring Institution:  The Hospital for Sick Children, Toronto (Canada)

Did you know that since 1993 NNPDF has funded 52 grants and 18 fellowships totaling over $4,000,000? NNPDF’s contributions to Niemann-Pick research 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.

We are proud to announce that NNPDF is once again funding important research fellowships! 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.

Presentations on the fellowship research will take place at the NNPDF Conference in July 2021.

NNPDF Community Mobile App

Have you downloaded the NNPDF Community app? The NNPDF Community section of the app keeps you connected to NNPDF friends and families, and up-to-date on our latest news, updates, and programs throughout the year. Download to your smartphone or tablet!

The NNPDF Community Mobile App is available through the App Store and on Google Play. After the app is installed, enter your email address and create your profile.

NNPDF In Action

Justin Hopkin Wears a Lot of Hats and Makes Them All Fit to Help Serve Others | NNPDF Board Chair was recently featured in Uplifting Athletes, a national nonprofit organization aligning college football with rare diseases. Justin, you are in inspiration to many and we are honored to have you serving our community. Click here to read article.

NNPDF Executive Director, Joslyn Crowe’s recent article was featured in Rare Disease Report on HCP Live. Read “Getting a Treatment Is Not the End of the Road in Rare Diseases” here.

We’re proud to share NNPDF Executive Director, Joslyn Crowe’s, podcast episode on Global Genes RARECast where she speaks about how NNPDF is preparing the patient community for the availability of the first therapies for niemann-pick disease, the issues people will need to consider, and how families may think differently about their futures. Listen here.

Homers for Heroes

Congratulations to Kelly Ann Thompson (NPC) who was recently recognized as a Homers for Heroes, “Hero of the Day”! Kelly has volunteered for numerous trials and tests in hope of helping the doctors and scientists find a cure for NPC. She is 41 years old now and has battled this disease for more than half her life with no complaints or “why me”. Kelly lives in a senior center as she requires 24-hour attention.

Homers for Heroes states “Kelly, and others who suffer from difficult diseases, but continue the fight every day, are our heroes! Kelly, we are so sorry for what you are going through and thank you for working so hard to help find a cure. You are our hero!”

The Homers for Heroes organization was created by New York Mets first baseman Pete Alonso and fiancé Haley Walsh to recognize the outstanding work of our heroes and inspire others to be a hero in others’ lives. Learn more at homersforheroes.org.

ASMDFacts.com

Sanofi Genzyme recently announced the launch of ASMDFacts.com, a web resource dedicated to Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick disease types A, A/B, and B.

This website includes helpful resources for both diagnosed and undiagnosed patients, as well as their caregivers. Visit ASMDfacts.com and register to stay up to date on information about ASMD.

Navigating Together: Support for all phases of Niemann-Pick disease

NNPDF is continuously working to meet the needs of our community. An area of need that we hope to help support are those surrounding loss (bereavement) and loss related to the Niemann Pick Disease Diagnosis. NNPDF Family Services is offering a new direct services program to provide a confidential space for families to process the complexities related to the realities of loss on multiple levels.

Our program will include small group sessions for bereavement and loss (via Zoom online platform) led by licensed professional trained in grief counseling. It will be free of charge for NNPDF community members and will require an 6 or 8-session commitment. Sessions will be held weekly, bimonthly, or monthly.

If you would like to learn more about Navigating Together, please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

NNPDF Challenges of Access Survey

Thank you to all who participated in the NNPDF’s Challenges of Access Survey. The data collected will assess challenges you have experienced in accessing care, coverage for medications, services, and devices, and will be a valuable tool for us in advocating for Niemann-Pick families to ensure coverage for FDA-approved treatments. The data is being analyzed now and we will share the results in early 2021.

Shared Journeys: Unaffected Siblings Group

Interview with Christopher Sousa

by Miranda Feinberg, NNPDF Intern

Meet Christopher Sousa, age 19. Christopher’s brother, Connor, is 17 and was diagnosed with Niemann-Pick type C in late 2011.

Can you tell us a little bit about yourself and your sibling?
I am Christopher Sousa, I’m nineteen… Connor is seventeen. So, he wasn’t diagnosed until December of 2011, he was eight and I was ten. And there were clues, like when he was four and he had liver problems, we thought it was Biliary Atresia, and when he was seven weeks old he had surgery on his liver.

 

Do you remember being told when Connor was diagnosed or learning about the diagnosis?
Yes, I do. I don’t think I was really told much since I was ten, so I was just pretty much told ‘he has this thing, and he’s probably not going to live as long as you or other people.’ And that was pretty much it.

And before the diagnosis, did you notice anything or any symptoms on your own, or did you find out mostly through your parents?
When Connor was in pre-school my dad thought there was something wrong, and my mom just said he was being paranoid. But then in kindergarten I think they both noticed something was wrong, because I remember when he was in kindergarten there were a couple days where he had to wear an EKG. Of course, cataplexy was super obvious, but there’s nothing that seems necessarily wrong with that, it was just like ‘oh, he fell over because he was laughing.’

Is there anything you wish you had learned or were told when you first learned the diagnosis?
It’s kind of related, but I do wish I had been tested to see whether or not I’m a carrier at the same time that he was tested. Just to know, because that’s still something that bothers me now since I haven’t been tested.

 

How does Niemann-Pick affect your daily life, for you personally versus your family as a unit?
I don’t know, it sort of becomes a fact of life. I just don’t have anything to compare it to, other than I guess my friends. But everything, when you compare it, isn’t going to be the same.

Does Niemann-Pick affect your daily routine in any way?
I remember feeling disconnected from other people my age kind of, when I found out, because suddenly there was a lot more responsibility. You were now spending parts of your day taking care of your brother instead of going out, to the park, having fun, and hanging out after school.

How do you explain what Niemann-Pick disease is to your friends?
It’s not really something that comes up often. I just tell them he has a disease, he was born with it, and it only gets worse. He used to not be as bad as he is now, he used to be like us until he was about eight or nine. So that’s kind of what I tell people.

In general, do you think you get enough information about Connor’s health or about Niemann-Pick in general?
I think so, especially now that we’re part of NNPDF, I think if we weren’t there would just be a lot less information. Also, it’s just so good having other people around who understand.

Do you find that most of your information about Niemann-Pick is given to or shared with you, or do you ever seek out information on your own?
I think it’s definitely a mix of the two, seeking and receiving. I get a little bit from my mom, and a little bit from NNPDF emails, so I go in and read the links. But I’ve also looked into it more in the past, especially in high school, on projects dealing with biotech.

 

What advice would you give to other young people in your situation when they first learn of their sibling’s diagnosis?
Definitely, there’s a lot of times where it’s really easy to be angry or upset, and you just have to laugh, just be like ‘how stupid is this?’ When I was younger I was really angry about it all the time, and I never really took the moments as like ‘oh, he made a mess, that’s funny’ versus ‘he made a mess, now I have to clean it up.’

Is there anything related to your brother’s illness that you personally are in charge of handling or feel most responsible for?
One of the things that I do most days is a breathing treatment that he does now. It takes about an hour, he does it twice a day, and I’m usually there doing it. As they get older they have trouble swallowing, and they get fluid build-up in their lungs, so it’s to prevent that.

Are there other things you and your brother share, any activities you like to do together?
When we were younger we used to watch movies and listen to music together all the time… now not as much. His favorite song, we would both just yell it, was “We Built This City” [by Starship] and he definitely, definitely loves watching The Muppets.

For more information on the Unaffected Siblings Group contact Family Services Manager, Laurie Turner at familyservices@nnpdf.org.

In the Spotlight

April Clemenza

ASMD Patient

Tell us a bit about yourself, such as where do you live and what do you enjoy doing?
My name is April Clemenza. I was born in Southern California on March 23rd, 1983. I am the oldest of four. As far as we know I am the only one in our family to have Niemann-Pick. We moved to Texas when I was little. Currently, I am 37 and live in Cibolo, Texas, a small suburb of San Antonio. I am married to my best friend. Chris and I will have been married 14 years on December 4th, 2020. We have a 5-year-old son named Nicholas. He is our world. My husband is in the Army and we have moved several times over the years but are finally back home. Which means that we are near family. I love being able to spend time together. Matter of fact, it is my favorite thing to do. Growing up, my family was always there for me. Today the only thing that has changed is now my husband and son are there too. They are my biggest support system.  

 

When did you receive your diagnosis? What led you to diagnosis?
I do not remember the day that I got my diagnosis because I was only two. I have been told the story many times though. Originally my parents were given a false diagnosis of Leukemia. Then at age two, I became sick and was admitted to the hospital with Mono. It was at that time the doctors realized how my spleen reacted and decided to do further testing. My parents finally had their answer, Niemann-Pick B, now known as ASMD. After the diagnosis I was followed closely by several teams of doctors. Mostly by a Neurologist and Hematologist who diagnosed me. My neurologist stated that he saw the Babinski reflex and referred me to the National Institute of Health who at the time were working with Type C patients. That program eventually lost funding and ended though. 

 

What were the first steps your parents took after diagnosis?
For many years I had normal check-ups to make sure I was on track. Sure, I had little hick-ups along the way but who doesn’t. I went to school like everyone else. I played with all my friends. I did sports like softball, tennis and swim team. I love swimming. I was in band. I loved and still love art. I graduated high school on time in 2001. I lived a pretty normal life except missing a day here or there to stomach aches. 

In the summer of 97, I was away at camp when my appendix ruptured. I spent a little over a week in the hospital. In October of 98 I hit another hick-up. I had developed a rash of petechiae on the backs of my legs, my hands and ankles. We found out my platelets were at 3,000. The doctors ran a lot of tests and came up with Immune Thrombocytopenia Purpura or ITP for short. The doctors were having a hard time getting my platelets to climb to a safe level. They decided it best to prep me for a splenectomy. I remember it clearly. I had received all my shots to prepare my body to not have a spleen. My Dad had gone home for a bit to shower and change. My Mom stayed with me. The surgeons had just come in to discuss everything with us when my Dad came running in and told them “get out! She’s not having the surgery”. See, my Dad had received word from Doctor McGovern at Mt. Sanai. At the time she was head of the clinical research team working with Niemann-Pick patients. She had told him not to let the surgeons remove my spleen unless it was a life and death situation. She explained how important the spleen was to Niemann-Pick patients. 

Not long after that I made my first trip to NYC. I was so excited to be there. I remember meeting my friend Leslie. She was the first person with Niemann-Pick, other than me, that I had ever met. She is no longer part of this world, but I will always carry her in my heart. She is like many I have met and love that have been lost to this horrible disease.  She made me realize I was not alone in this fight. We have each other. 

 

How did you learn about NNPDF?
Doctor McGovern introduced me to the NNPDF while I was in NYC. In doing so she gave me a connection to an irreplaceable family. I attended my first medical conference in 99. I do not know where I would be without the courage, strength and patience I have learned through the families in the NNPDF. I have made valuable connections to doctors, researchers, other patients, and I was even part of the phase 1a trial for Olipudase Alfa, enzyme replacement therapy. Every year we look forward to seeing everyone at the annual NNPDF conference and learning new information. The NNPDF plays a huge role in bringing our families together and providing us with resources to help guide us to a better future. Being part of a family is being part of something bigger than just yourself. That is what the NNPDF is to me.

What impact has ASMD had on your life?
It has been a long road and these last few years have been my hardest. I have had a continual flair up of ITP and was also diagnosed with Multiple Sclerosis. I am learning new ways to overcome just as I did when I was little. I am looking forward to the future. With the trials for Olipudase Alpha nearing an end there is new hope. A day where I can finally have strength to do day to day tasks without being so worn out. A day where I can take a deep breath and truly breath in. A day where I can keep up with my little man. A day where we can all feel 100%. I know my parents and husband have been waiting for that day too. I know it is close.

 

How has being an NNPDF member benefitted your family?
The role that the NNPDF has played not only in my life, but all of ours, is huge. They make it possible for us to have the connections to each other, not only here in the states, but all around the world. They have brought us together to support one another and share with each other whether it be grief or happiness. If anyone knows what I have gone through it is all of you, the NNPDF family. Thank you for always being there for my family and me. Stay Strong and stay positive. That day is coming.

Family Journeys Blog

Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog!

INPDR Update

This Summer, despite such globally challenging times, has been a season of growth for the INPDR and we thank our US-based supporters for their continued belief in the power of patient data. As we move into Fall, the next few months set to be equally as busy for the team.

As you may be aware, we began the recruitment process for a Clinical Research Associate (CRA) to expedite data entry and support clinical centres in the US with participation in the INPDR. We were delighted to receive over 150 applications and that have now been short-listed – we hope to introduce our new CRA very soon as we get closer to appointing the right candidate. We’re really excited about the boost this project will make to recruitment to the INPDR and, in turn research and progress for the Niemann-Pick disease community.

The Registry Management Team have also been working hard to develop aspects of our governance, which will consolidate our work and improve communication with the Niemann-Pick disease community and our wide range of collaborators. Every piece of patient data is another step along the road to progress – the more patients and their families that take part, the greater the outcomes are likely to be. The data in the INPDR belongs to patients in every sense of the word – our hope is that families and advocacy groups can make as much use of the data as researchers. Every research output helps us to learn and understand Niemann-Pick disease community and a true patient and family perspective is vital to this.

You can sign up to our newsletter, due to launch in the New Year using this link: Subscription list or visit the website: inpdr.org/contact-us. Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.

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.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.

Save the Date!

NNPDF – INPDA Global Family Support & Medical Conference

MARK YOUR CALENDARS! The 2021 NNPDF – INPDA Global Family Support & Medical Conference will be held July 29 – August 2, 2021 in Orlando, Florida at the Wyndham Grand Orlando Resort Bonnet Creek. Registration and hotel information to follow.

Thursday, July 29:
NNPDF Family Advisory Working Groups
NNPDF Conference Opening
NNPDF Welcome Dinner Event

Friday, July 30:
NNPDF Community Conference Sessions
INPDA Welcome Dinner Event

Saturday, July 31:
NNPDF & INPDA Global Community Conference Session
NNPDF & INPDA Gala Dinner

Sunday, August 1:
INPDA Conference Sessions
INPDA evening event

Monday, August 2:
INPDA Community Conference Sessions

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

August 2020

mborst

Message from the Executive Director

Dear Friends,

As summer comes to an end many of our families are starting a new school year and adapting to distance learning, hybrid schedules, or home schooling that COVID19 has brought us, others in our community are struggling with challenges from COVID related to job loss, financial stress, or emotional stress, and some in our community enter the fall celebrating milestones and special occasions while others are grieving the loss of their loved ones. It is a time of change for us all.  Our new Family Journeys blog and Unaffected Siblings interview series feature stories of several of the families in our community and give insight into real experiences of families and individual’s Niemann-Pick experiences.

The coming months of autumn bring two significant markers in our space. September is Newborn Screening Awareness month and October is Niemann-Pick disease Awareness month. Be on the lookout for special events and news throughout the coming months on ways we can increase awareness of the urgency of early diagnosis and treatment for Niemann-Pick disease.

For now, there are 3 important initiatives I want to highlight and ask you to share:

1.  NNPDF’s Challenges of Access study:  The NNPDF wants to understand the challenges you may experience pertaining to accessing care and challenges you have experienced in coverage for medications, services, and devices. The information from this study will be essential as we advocate for Niemann-Pick families to ensure coverage for health care today and access to FDA-approved treatment in the near future.

Sign up by September 10th, 2020 to participate. A $100 honorarium is provided for your time.

Click here to learn more.
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2.  NPC Newborn Screening Research Study:  NPC community foundations in the US and Canada are partnering with RDMD 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. which 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).

Sign up by Tuesday, September 15th, 2020 to participate in this important program.

Click here to learn more.
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3. 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.

To learn more, visit: nnpdf.org/family-services/ehp

As always, the NNPDF team is here for you to support your needs or answer your questions.

Fondly,

 

 

Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Health Insurance Survey

As an organization committed to supporting patients and families with Niemann-Pick disease, we are currently conducting an important research project and need your help to collect information from the NPD community – this study is especially important as several clinical programs in the Niemann-Pick community are coming closer to submit to the FDA for approval.

The NNPDF wants to understand the challenges you may experience pertaining to accessing care and challenges you have experienced in coverage for medications, services, and devices. The information from this study will be a valuable tool for us as we advocate for Niemann-Pick families to ensure coverage for health care today and access to FDA-approved treatment in the near future.

Our research team felt that 90 participants for this study will provide accurate data and power. We have had a great response from the community to date but still need additional participants to reach that goal. The study will end on September 10th, so sign up today and help us reach our goal!

What does the survey involve?

It’s easy! Your involvement consists of filling out a Survey/RSVP and a 30-minute telephone interview. A $100 honorarium will be paid for your time. If you are not a member of NNPDF, you will need to provide a document that shows proof of disease (a school note, copy of chart note, or another document)

How can you participate?

To participate in the survey “Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick disease Through the Eyes of Patients and Families” follow these steps:

  1. Go to https://t.ly/pyt5 for eligibility requirements and to participate
  2. Check the box that says “Check if you have no code
  3. Complete the Survey/RSVP
  4. Once you have completed the survey and RSVP, someone from the Engage staff will contact you and confirm the date and time of your telephone interview.

Learn more here.

DEADLINE IS SEPTEMBER 10th!

Question? Contact Joslyn Crowe, Executive Director.

Supporting One Another. Supporting Our Community.

Newborn Screening

Call to Action: NNPDF, APRMF, NPCanada and Firefly Fund Seek Your Participation in a first-of-its-kind Newborn Screening Research Study – Please sign up to participate HERE by Tuesday September 15th, 2020.

NPC community foundations in the US and Canada are partnering with RDMD 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 RDMD, 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 and Canada 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.

Act Now: Signing up to participate by Tuesday September 15, 2020, is the first important step. The sign-up process is EASY and fast. One parent can sign-up multiple children under his/her account. Go to: rdmd.com/NPC

Important Notes:

  • Presently, the research can only include patients living in the US and Canada.
  • 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

NNPDF In Action

Congratulations to Evren Ayik who will receive Sanofi Genzyme’s TORCH Award on August 27th. The event will be held on Facebook Live – to join Sanofi Genzyme for the 2020 virtual TORCH Awards on August 27th from 7 – 8pm EST click here.

Evren motivates and inspires us all! This moving celebration will honor rare disease advocates who work tirelessly to transform outreach and create hope for the rare disease community throughout the United States. First established in 2017, the TORCH Awards program was created to recognize families and supporters in the rare disease community. Evren, thank you for your advocacy on behalf of the rare disease community. To watch Evren share his Niemann-Pick story click here.

NNPDF Board Member, Meghann Ferguson, along with her son Liam (NPC), were recently interviewed by CBS-affiliate television channel WDMV. They shared the importance of more awareness of NPC and the urgent need for approved treatments. For complete story click here.

During the Sanofi Genzyme Patient Advocacy Leadership Summit, NNPDF Executive Director Joslyn Crowe shared her insights on “Developing Your Board & Growing Your Organization” and the “Do’s & Don’ts of Going Virtual”.

NNPDF Executive Director, Joslyn Crowe, was featured as an expert speaker at the Inborn Errors of Metabolism Drug Development Summit speaking on “Effective Collaborations Between Industry and Patient Organizations”. She also spoke on the panel discussion “Tackling Ultra-Rare Inborn Errors of Metabolism: Addressing a Huge Unmet Medical Need” and as a workshop leader on “Patient Access & Recruitment for Rare & Ultra-Rare Metabolic Diseases”.

NNPDF Community Mobile App

The NNPDF Community app is now live! Use the Community section of the app to keep you connected to NNPDF friends & families and to stay up to date on our latest news – Download it today to your smartphone or tablet! Check your app for the latest news, updates and programs.

The NNPDF Community Mobile App is available through the App Store and on Google Play. After the app is installed, enter your email address and create your profile.

Save the Date!

NNPDF – INPDA Global Family Support & Medical Conference

MARK YOUR CALENDARS! The 2021 NNPDF – INPDA Global Family Support & Medical Conference will be held July 29 – August 2, 2021 in Orlando, Florida at the Wyndham Grand Orlando Resort Bonnet Creek. Registration and hotel information to follow.

Family Journeys Blog

Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog!

Coming Soon!

Coming this fall, NNPDF will hold support sessions for living with loss. These 8-week programs will be led a trained professional and will offer a small-group space to share, learn, and heal. The program will be held virtually and will require an 8-week commitment.

Three tracks will be formed: 

  • Legacy families who have lost a loved one
  • ASMD families
  • Late onset NPC

INPDR Update

The team from the INPDR hope all our friends and families from the NNPDF and US Niemann-Pick community continue to keep safe and well while the COVID-19 pandemic still impacts our lives, albeit with some easing of restrictions in places.

Back in June, we were very pleased to share the news that the INPDR had been awarded a grant from the Ara Parseghian Medical Research Fund, which we explained would accelerate our work in the US.

As part of this grant project, if you have been following our social media channels you may already be aware, we have started the recruitment process for a Clinical Research Associate (CRA). We have received a really positive response to our advertisement and will be moving onto the next stage of the recruitment process.

The appointment of a CRA will provide invaluable support to clinical centres to boost the quantity of data in the Registry, as well as help to ensure the highest standards of data quality. These two things are important because they help to make sure the data is as valuable as possible for research and progress for the Niemann-Pick disease community.

There has also been a good response to our email regarding account reactivation for those already signed up to the Patient Reported Database (PRD) – thank you to everyone who has followed the instructions to reactivate their account or got in touch with any queries.

Furthermore, we have seen several new PRD accounts being set up – it’s very encouraging to see this kind of support for the work of the INPDR so would also like to say thank you to all the families who have signed up.

Every piece of patient data is another step along the road to progress – the more patients and their families that take part, the greater the outcomes are likely to be.

Finally, we will be launching a quarterly newsletter later in the year for patients and their families, as well as another one for professionals, so the global Niemann- Pick community can keep up to date with our global progress. You can sign up using this link: Subscription list or visit the website: inpdr.org/contact-us for the link.

Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.

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.

Update PALS: Patient Airlift Services

PALS is flying again! The decision to pause their missions due to COVID-19 was a very hard one to make. Now after careful consideration, PALS is beginning to resume select missions again! CLICK HERE to learn more.

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.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

July 2020

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NNPDF Family Support & Medical Conference Recap

Thank you to the 290 participants who joined us for this year’s virtual conference weekend! Our speakers, break out session leaders, and family members came together for learning, sharing, and dialogue – kicked off with a keynote address by Dr Kathleen Donohue, Acting Director, Division of Rare Diseases and Medical Genetics (DRDMG), Office of New Drugs, US Food & Drug Administration.

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.

To view our special conference videos and session recordings CLICK HERE.

NNPDF Family Support & Medical Conference Recap

Thank you to the 290 participants who joined us for this year’s virtual conference weekend! Our speakers, break out session leaders, and family members came together for learning, sharing, and dialogue – kicked off with a keynote address by Dr Kathleen Donohue, Acting Director, Division of Rare Diseases and Medical Genetics (DRDMG), Office of New Drugs, US Food & Drug Administration.

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.

To view our special conference videos and session recordings CLICK HERE.

NNPDF Health Insurance Survey

YOUR VOICE MATTERS!

Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick disease Through the Eyes of Patients and Families

NNPDF is conducting a survey of the U.S, Niemann-Pick disease community to further understand the patient and healthcare provider experience in Niemann-Pick as it relates to health insurance knowledge, coverage, as well as the challenges experienced by patients and their families pertaining to access of medications, services and devices.

Who can participate? Niemann-Pick patients 18 years of age and older or their parents. This is not the full list of eligibility criteria. Find out if you qualify and get more information on this study by visiting Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick disease Through the Eyes of Patients and Families.

A $100 honorarium is available to participants.

Why is this important? This important survey will identify health insurance usage, access, and barriers across the country. The survey will also allow us to better understand where the community may need more tools or assistance in understanding the complexities of health insurance. The data gathered from this national survey will provide a credible quantitative platform for NNPDF when speaking with legislators, key opinion leaders, and media about access to medications, pricing, economic impact, or legislative reform. This is the most comprehensive survey of the Niemann-Pick health insurance landscape to be conducted in the U.S.

Learn more here.

Question? Contact Joslyn Crowe, Executive Director.

NNPDF Community Mobile App

The NNPDF Community app is now live! Use the Community  section of the app to keep you connected to NNPDF friends & families and to stay up to date on our latest news – Download it today to your smartphone or tablet!

This interactive tool was used during the Family Support & Medical Conference and we’ll continue to add programming and content throughout the year.

The NNPDF Community Mobile App is available through the App Store and on Google Play.

After the app is installed, enter your email address and create your profile.

Save the Date!

NNPDF – INPDA Global Family Support & Medical Conference

MARK YOUR CALENDARS! The 2021 NNPDF – INPDA Global Family Support & Medical Conference will be held July 29 – August 2, 2021 in Orlando, Florida at the Wyndham Grand Orlando Resort Bonnet Creek. Registration and hotel information to follow.

Family Journeys Blog

Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog!

ASMD Survey Opportunity

RTI Health Solutions is recruiting certain types of patients with Niemann-Pick ASMD, type A/B or type B. Click here to learn more about this survey or to find out if you are eligible contact Andrew Fox at RTI Health Solutions at 919-541-1274 or afox@rti.org.

Newborn Screening Initiative Presents at NNPDF Annual Family Conference

Firefly Fund’s NPC Newborn Screening Initiative had the opportunity to deliver a presentation at this year’s NNPDF Family conference, updating participants on the latest activities with this important community activity. We focused on two research initiatives: 1) the ScreenPlus pilot newborn screening study is making final preparations to launch in the state of New York, amidst the covid-19 pandemic; and 2) the NPC Sibling Study, being conducted in collaboration with a research entity called RDMD, to compare health outcomes of NPC-affected siblings based on timing of initiation of treatment. You can check out the presentation here. The Initiative also hosted its third quarter Working Group call in July. We welcomed researchers from RDMD to discuss the sibling study in greater detail. They outlined the development of recruitment materials that are in the final stages of preparation. As soon as these are ready to go, Firefly and other Working Group participants like NNPDF will be sharing these with the NPC community so we can encourage families to participate. The research – with a study protocol being developed by leading NPC clinicians Drs. Elizabeth Berry-Kravis, Marc Patterson, and Denny Porter – will go a long way to helping the NPC community to demonstrate the impact and importance of intervening earlier in disease progression to improve health outcomes for people affected with NPC.

 

INPDR Update

Firstly, the INPDR would like to take this opportunity to congratulate the NNPDF team on a fantastic conference.

It was wonderful to connect with so many families and hear your stories. Thank you to everyone who attended the INPDR presentation and the Meet & Greet – it was encouraging to see so many interested in finding out more about the INPDR.

Through our conversations during the conference, we have identified some areas to continue working on, particularly for those patients whose care is not being provided through a specialist clinical care centre. We’d really like to keep the conversation going and will be considering the future in supporting these patients and their clinician to contribute to the Clinician Reported Database (CRD).

In the meantime, there is still an opportunity for those patients to contribute through the Patient Reported Database (PRD) and it is wonderful to see many patients and their families taking this action. Your experiences are so vital to our work and progress for the global Niemann-Pick disease community.

Those of you who signed up to the PRD before the system was migrated and upgraded should have recently received emails asking you to reactivate your accounts so your data can continue to make a valuable contribution to progress and research. The INPDR is grateful for everyone who has been able to do this – if you haven’t had a chance yet, there’s still plenty of time.

During the NNPDF Conference we were asked about security of data during the migration and upgrade process so we’d like to reassure patients and their families that the INPDR continues to maintain the highest standards of data security to protect your and your family’s privacy.

If you have any other questions about reactivating your account or signing up to the Patient Reported Database (PRD), please get in touch on info@inpdr.org – we’re always happy to help!

Once again, thank you to the organisers of the NNPDF Family Support & Medical Conference – such a successful event despite the undisputed challenges.

In these unprecedented times, it is amazing to see that the drive, commitment and support within the Niemann-Pick community continues to grow from strength to strength.

We look forward to next year and the opportunity to meet with you all face-to-face.

Shared Journeys: Unaffected Siblings Group

This is the first installment of NNPDF’s Unaffected Sibling Interview Series. This series will highlight the unique experiences that unaffected siblings in the Niemann-Pick community go through. Our unaffected siblings experience life with Niemann-Pick disease from a unique perspective and have special insights into the journey.

Interview with Serina Heinze

by Miranda Feinberg, NNPDF Intern

Our first interview is with Serina Heinze, age 20, who lost her older brother Tyler and younger sisters Katie and Faith to NPC. We spoke with Serina over the NNPDF Conference weekend. Serina is an inspiration within the Niemann-Pick community and leader within our Unaffected Siblings Group.
READ INTERVIEW HERE

Update PALS: Patient Airlift Services

PALS is flying again! The decision to pause their missions due to COVID-19 was a very hard one to make. Now after careful consideration, PALS is beginning to resume select missions again! CLICK HERE to learn more.

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:
A message from Cyclo Therapeutics to the NPC Community. Click here for complete announcement.

Update from Mallinckrodt Pharmaceuticals:
Please take a moment to read the following important announcement from Mallinckrodt Pharmaceuticals in regard to the clinical trial of Adrabetadex for NPC-1. Click here for complete announcement.

Update from Orphazyme:
Orphazyme completes rolling submission of New Drug Application to U.S. FDA for arimoclomol for Niemann-Pick disease Type C. Click here for complete announcement.

Update from Sanofi Genzyme:
Sanofi Response to ASMD Community in the US: In response to NNPDF’s inquiries to Sanofi about access to olipudase alfa in the US, Sanofi has written the following response. Click here to read the response.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.

Woodcliff Lake School District Fundraiser for NNPDF

Over five years ago the faculty and staff of the Woodcliff Lake School District began raising money for the National Niemann-Pick disease Foundation. When the children of one of our teachers were diagnosed with this rare disease we, as a community, were looking for a way to help. We began small at first just accessing the faculty and staff of our small district. Staff were permitted to wear jeans on a Friday in February for a $5 donation.

Over the years, our fundraising efforts/awareness campaign have grown. We have sold T-shirts to staff, increased the amount of jeans days, and included public service announcement videos teaching students about rare diseases on Fridays in February – with the final Friday focusing on Niemann-Pick disease. Through these efforts, we have raised and donated over $4000.00 to the National Niemann-Pick disease Foundation.

Our plan this year was to expand our fundraising efforts to include our students and the local community. Unfortunately, COVID 19 disrupted our fundraising efforts this year and we were forced to reschedule our planned event to the fall. We look forward to creating new and engaging ways to raise money and awareness for this worthy cause.

Have you hosted a fundraiser for NNPDF recently?

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

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

June 2020

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Message from the Executive Director

Dear Friends,

The past few months presented unexpected challenges for our community.  COVID19 forced us to make changes to our daily life, learn new phrases like “social distancing”, and be even more vigilant about protecting our loved one’s health. At NNPDF we held several webinars as part of our Community Update Webinar Series including clinical updates by Mallinckrodt Pharmaceuticals and Orphazyme, as well as a program on “SelfCare in times of crisis and stress”.

We quickly added more family services program content to our weekly schedule to meet the growing needs of our families. Small group discussions have been held by Zoom to provide a space for families to gather, share, and decompress.

Perhaps the biggest change we needed to make was to change our Family Support & Medical Conference to a virtual conference event. We will continue to provide high-quality educational and clinical sessions but this year we will all participate from our own homes. The conference is only a few weeks away – I hope that you’re planning to join us and take part in the exciting interactive events we have planned from July 10-12th. We are excited to launch our new NNPDF app at the conference! Download it today for updated content throughout the year.

We are pleased to share that the International Niemann-Pick disease Registry (INPDR) implementation is progressing in the US. Our clinicians are ready and we are continuing to educate families on the importance and ease of registering their loved ones. As the US member organization of the International Niemann-Pick disease Alliance, NNPDF is continuing to play an important lead role in supporting the registry in the US.

We are also launching a national survey designed to understand challenges related to accessing treatments and insurance coverage in the US. The will be the most comprehensive survey of the Niemann-Pick community to date and will yield us valuable data to share with opinion leaders and decision makers in the regulatory field as well as those responsible for payment, insurance, and more. We will publish the results and learning from our survey at the end of 2020.

Our Board of Directors has also changed recently. We thank Lisa Chavez, Anne OConnor-Smith, and Darrile Papier for their dedication and service to NNPDF. Their tireless work has brought our organization to a new level of high quality family support and advocacy. We are proud to welcome our incoming Board members to our team: Kara Ayik, Anthony Leoni, Paul Merrigan, and Michael Smith.  Send them a welcome if you’d like!

Fondly,

 

 

Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Family Support & Medical Conference

Registration is free of charge for all families. Our virtual conference will be interactive and engaging with the latest in clinical updates, educational sessions from top speakers, an important keynote address from the U.S. Food and Drug Administration (FDA), plus much more!

Click Here to Register!

NNPDF Conference & Community Mobile App is Live!

The NNPDF Conference & Community app is now live! Download it today to your smartphone or desktop/laptop! This interactive tool will be used during the Family Support & Medical Conference and we’ll continue to add programming and content throughout the year.

MOBILE APP HIGHLIGHTS:

GET INSTANT UPDATES
Get real-time updates and announcements throughout the Conference and throughout the year.

CREATE YOUR OWN AGENDA
Create your own schedule with the sessions you want to attend.

MAKE CONNECTIONS ON THE SOCIAL WALLS
Post photos, ask questions, and interact with other participants.

MEET OUR SPONSORS
Learn and interact with our sponsors.

The NNPDF Conference & Community Mobile App is available through the App Store and on Google Play.

After the app is installed, enter your email address and create your profile.
Tap the NNPDF 2020 Family Support & Medical Conference.
Tap JOIN and use the event code (sent after you register for the Conference). Not yet registered? Click here!

Don’t have a smartphone? No problem! To access the read-only version on a desktop/laptop for an ideal live stream viewing experience, use our WEB MOBILE APP!

NNPDF Pyramid Challenge 2020

Thank you to those that have already shared their creations! Click here to see more fantastic pyramids. Remember to challenge your friends to “Do or Donate $20” to the NNPDF to help support Niemann-Pick families. Tag #NNPDFPyramidChallenge2020 and @NNPDF.

CONGRATULATIONS to our Pyramid Challenge drawing winners: Jennifer Levin, April Clemenza and Heather Taillefer who each received a $50 Amazon gift card!

#NNPDFPyramidChallenge2020
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NNPDF Board Member Updates

Thank You…

Our heartfelt THANK YOU to Lisa Chavez, Anne OConnor Smith, and Darrile Papier as their terms come to a close. Your dedication, service, and commitment to the National Niemann-Pick disease Foundation and the families it supports has been extraordinary.

Welcome Incoming Board Members…

We are proud to welcome our incoming Board members to our team: Kara Ayik, Anthony Leoni, Paul Merrigan, and Michael Smith. Learn more about them here.

Pictured above are 2020 BOD members with Joslyn Crowe, Executive Director, Laurie Turner, Family Services Manager, and Marla Bobowick, Leadership Development Consultant.

ASMD Survey Opportunity

RTI Health Solutions is recruiting certain types of patients with Niemann-Pick ASMD, type A/B or type B. Click here to learn more about this survey or to find out if you are eligible contact Andrew Fox at RTI Health Solutions at 919-541-1274 or afox@rti.org.

Newborn Screening

Extra Extra: Read All About Parallels Between Testing for COVID-19 and Newborn Screening Testing for NPC

Test, Test, Test. It’s the mantra we’ve been hearing for months to help the United States get a handle on the spread of COVID-19. Leaders of the NPC community’s newborn screening initiative heard the messages, too and wondered, “how are the calls for testing for the coronavirus different from testing for NPC?”  Turns out, there are a lot of parallels. 1. Like the power testing affords us as we confront COVID-19, knowledge can also empower families in the newborn screening environment; 2. As with COVID-19 testing, we need nationwide and consistent newborn screening; 3. Just like with COVID-19, rare diseases often go undetected at first. Early testing is the only way to know sooner and take action; 4. Just as we’re learning with COVID-19, we need to build the testing capacity of our nation’s laboratories so we can better manage diseases earlier; and 5. Like COVID-19 where knowing sooner means a person can take immediate steps to “stop the spread,” knowing sooner with rare diseases means parents can make informed decisions regarding interventions.

The insights, authored by Firefly Fund’s NPC Newborn Screening Initiative leaders, Pam Andrews and Allison May Rosen were published by Rare Daily. Please read the article and help spread the word. Thank you!

 

In the Spotlight

Cora Sterling

Cora Sterling is a friend to Niemann-Pick community, supporter, volunteer, host of “NNPDF StoryTime with Cora”, and innovator in the Activity Zone at the annual Family Support & Medical Conference. She is the namesake of the NNPDF Cora Sterling Endurance Award which is awarded 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.

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I grew up in a small town in central Minnesota, got a degree in German from Carleton College and a degree in teaching English as a Second Language and Bilingual Education from Georgetown University. I have been interested in other cultures and foreign languages since I was young. I studied German in Germany, Spanish in Mexico and Costa Rica, and Japanese in Tokyo. I am married to Bill and we have two daughters and a son, a son-in-law, a daughter-in-law and four granddaughters. Bill and I both come from large families, and spending time with family is a priority for us. I love traveling, eating out, going to Broadway shows, reading, watching movies, singing and being near water. I have always worked with children and am very interested in all issues related to improving education. My friends know that I like being a little out-of-the-box, dressing in costumes, using puppets and doing whatever I can to engage kids in an activity.

 

What caused you to get involved in the Niemann-Pick community? How did you learn about NNPDF?
Debbie Kaflowitz and I taught at the same elementary school in Summit, NJ and through her I became involved with NNPDF. When I met Debbie, her daughter Rachael had not been diagnosed with NPC, but her cognitive abilities were declining. When Debbie and her husband Steve were going through the agonizing process of figuring out Rachael’s “medical mystery”, the only thing I could offer was to be a friend to Rachael. One of Debbie’s concerns was that Rachael had no peer group or friends to hang out with, so I tried to find things to do with Rachael once in a while. I couldn’t really be a peer, but I could at least offer a bit of fun. Rachael really liked my puppets and that’s what lead to my involvement with the Family Conference. One year, Debbie suggested that I go to the conference and use my creativity and puppets to help in the Activity Zone. I was finally able to go to the first Chicago conference. I volunteered to help in the Activity Zone, which put me in contact with Missy and Jim Ward. They encouraged me to come with whatever creative activities I wanted to do. We talked about the possibility of an art show and a 

final show for parents. I learned SO MUCH at that first conference. Missy and Jim helped me understand better the needs of the kids. By observing the more experienced volunteers, especially the siblings, I learned better ways of interacting and matching activities to abilities

How have you participated at the NNPDF Conference(s)?
What did I bring to the table? I brought my “birthday party” skills – a fun theme for the weekend, room decorations, puppets for everyone and crafts and games related to the theme. I brought my love of fun, my amateur puppet skills, my willingness to be silly, my flexible thinking, my teaching skills and my ability to corral a group into performing a silly skit.

 

What has prompted you to continue volunteering the NNPDF Conference?
I have continued to volunteer at every conference since that first one. Helping at the conference is a priority for my summer. Why? Mainly I do it for the kids and young adults. I love doing what I can to make them smile. I love seeing them in the final show and dancing with them. Their lives are not easy, and I want to do my part to bring them just a little bit of happiness. But I’m also committed to the conference because I have met the most amazing people there. I cannot fathom the pain Niemann-Pick families have endured in their lives, but I can appreciate and learn from their resilience, their willingness to share their journey with others, their commitment to finding a cure and the incredible way they care for each other. Plus, even with loss that cannot be imagined, the people I have met are able to laugh, dance, applaud their children and have fun.

Rachael Kaflowitz passed away on October 25, 2018. She was the impetus for my involvement with NNPDF and in her name I will continue dressing up, acting silly, using puppets and having fun in the Activity Zone at future NNPDF family conferences.

INPDR Update

We are really looking forward to the NNPDF Family Support & Medical Conference, especially the opportunity to present on Sunday, July 12.

It will be a really informative webinar, even for those who think they know the INPDR!

We’ve been working so hard over the last year to develop and ensure sustainability of the registry – a lot has changed so there is much to bring you up to speed on.

We will be looking at some recent changes, what the data can do, why we need you and the next steps for the INPDR. No question is a bad question so we would love to hear from you with anything you don’t understand or need answering.

The INPDR are delighted to learn that we have had an application for funding from the Ara Parseghian Medical Research Fund accepted. This presents an opportunity to extend our work in the US and, more than anything, we’d like patients and their families to be instrumental in the success of the Registry – of course, we will be working very closely with the NNPDF, our partner leading the Registry initiative in the US. So please consider sharing your data either through your clinician into the Clinician Reported Database or directly through the Patient Reported Database.

Don’t forget you can sign up to the Patient Reported Database through the website and begin completing questionnaires straight away. The real-life experience of patients and their families is just as vital to progress as clinical data. We want to make sure patients are empowered to make care and treatment decisions and that future research considers quality of life.

We hope you have been following our campaign through our social media channels and that it is going some way to demystify the INPDR.

It is understandable that sharing your data may be low on your list of priorities, but we hope to show families and others in the Niemann-Pick disease community that the more data entered into the registry, the richer that data will be and the useful and impactful it can be for the whole community; from patients to researchers. Some of the progress may be felt in the short term, others will form part of a further-reaching lasting legacy.

Sharing data as part of the Patient Reported Database is something you can do now from the comfort of your own home to start making difference for your family and others.

Our door is always open to answer any questions and support the sign up process, and we are ever-grateful for the support of the team at the NNPDF, who are a key point of contact for the strong US Niemann-Pick community.

NPC Patient Handbooks

Patient handbooks are available to NPC patients and their families. This fillable electronic booklet is a place for you to record and print out important health and information to have available in case of an emergency. Click here to get your handbook.

ASMD Update

Sanofi Genzyme COVID-19 Study FAQ: In response to questions we have received from you about challenges faced in trial participation during COVID19, Sanofi Genzyme has provided the following information. Click here for complete information.

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 Cyclo Therapeutics:
Cyclo Therapeutics’ Clinical Data Webinar Recording is now available on company website. Click here for complete announcement.

Updates from Orphazyme:
A COVID-19 update from Orphazyme on its Early Access Program for Niemann-Pick disease Type C. Click here for complete announcement.

Orphazyme Initiates Rolling Submission of New Drug Application for arimoclomol with US FDA in Niemann-Pick disease Type C. Click here for complete announcement.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.

Jamberry Niemann-Pick disease Nail Wraps

Show your support in the fight against Niemann-Pick disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick disease Foundation for family support services. Click here for ordering details. Available year round.

Have you hosted a fundraiser for NNPDF recently?

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

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

May 2020

mborst

Message from the Executive Director

Dear Friends,

I’m excited to announce that the NNPDF Conference website and registration for the 2020 NNPDF Family Support and Medical Conference are OPEN! As you’ll see, this year’s virtual conference events will bring you all the NNPDF Family Support & Medical Conference session you love… from the comfort of your living room. Mark your calendar from July 10-12th and join us for a keynote address from Dr. Kathleen Donohue of the US Food & Drug Administration, ASMD and NPC clinical updates, COVID19 Effects & Impacts on the Niemann-Pick Community panel discussion, family support break-out sessions and more!

With this conference, we are launching an NNPDF app! You’ll use it first for the conference and then throughout the year for updates and interactive new content and programs. Be sure to sign in to the NNPDF app for the conference and interact with one another and with our sponsors.

This year’s Family Advisory Working Groups will take place on June 28th from 1:00 – 3:30pm EST a week prior to the start of our Family Support & Medical Conference. The Family Advisory Working Groups are a way to provide a voice for communication between patients, caregivers, their families, and the pharmaceutical industry, to provide guidance on the patient and family experience. Stipends of up to $350 will be paid to participants for their involvement. Read more about these here.

Even though our conference and events will look a bit different this year, we will continue to provide opportunities to reconnect and build stronger bonds with one another in support and encouragement. Although we are joining together from our homes, we still come together as one Niemann-Pick community and continue our tradition of supporting one another.

We are 11 weeks into our new normal of COVID19, and we have heard from many of you that our increase in Family Services programs offered has been helpful. We will continue to provide virtual spaces for these small group discussions and we will modify the content to meet your evolving needs. A special thank you to Cora Sterling for her weekly StoryTime – you have played such an important role for the children in our community, and also for the parents who were able to get some work done, or just take a break, during this hour!

Please remember that our Emergency Hardship Program is available for families in need. We are deeply appreciative of our sponsors who help make this program possible.

In a few weeks, you will see a request from NNPDF to take part in an important community survey of the U.S. Niemann-Pick disease community to help us better understand the patient and healthcare provider experience in Niemann-Pick as it relates to health insurance knowledge, coverage, as well as the challenges experienced by patients and their families pertaining to access of medications, services and devices. The survey will also allow us to better understand where the community may need more tools or assistance in understanding the complexities of health insurance. The data gathered from this national survey will provide a credible quantitative platform for NNPDF when speaking with legislators, key opinion leaders, and media about access to medications, pricing, economic impact, or legislative reform. Your input is important to us!

Please remember to take a moment to build a pyramid and be part of our #NNPDFPyramidChallenge2020! Post and share your creative pyramid on your social pages. Go big or go small. Use #NNPDFPyramidChallenge2020 and @NNPDF in your caption to be entered in a drawing for one of three $50 Amazon Gift Cards! You can enter as many times as you like! Don’t forget to challenge your friends to “Do or Donate $20” to the NNPDF to help support Niemann-Pick families. Remember to tag #NNPDFPyramidChallenge2020 and @NNPDF.

NNPDF is grateful to all our supporters for their gifts. Your support is needed now more than ever. If you’d like to help us to continue to serve the needs of our families, we appreciate your generosity and commitment.

Fondly,

 


Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF in Action through COVID19

We have all​ experienced a new normal over the past couple of months as we adjust to various stay at home orders across the country. We’ve been apart due to social distancing, but by catching up through our NNPDF Community Connections Chats and Coffee and, of course, during Storytime with Cora, we’ve been able to spend time together every week! Special thanks to everyone that has been able to join us. Whether it was connecting during coffee time or sharing experiences during one of the NPC or ASMD chats, we have enjoyed seeing you and getting to know you better! Haven’t had the chance to make one of the chats? Make sure to sign up now!

While it is great if you join us with video, don’t worry if you can’t – you can join our chats with audio only. Prefer to listen before joining in? Not a problem – we just hope to see you soon! Our Chats have been a great way to connect with other NNPDF members. We’ve shared ideas, tips, and resources, and it’s been a great opportunity that will continue post-quarantine orders!

NNPDF Research Fellowship Applications

The NNPDF will be accepting Research Fellowship applications until June 1st. 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 18 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.

ASMD Survey Opportunity

Help Needed for Niemann Pick Disease Type A & B (NPD A & B) / ASMD Research

Interested in sharing your experience as a patient or caregiver for a family member with NPD A or B? Participate in our survey.

  • The interview will be conducted on the phone at a time convenient for you and will take ~60 minutes
  • During the interview, we would like to discuss your story as a patient or caregiver: your experience with doctors, your diagnosis, your day-to-day life, and your hopes for future therapies
  • You will be compensated for your time, and your participation is confidential and anonymous
  • Note: this study is only for patients and caregivers not currently participating in a clinical trial

Ready to participate?

To learn more about how you can participate in this research, contact Eli Leavitt: eleavitt@trinitylifesciences.com or 1-781-577-6392.

Your responses will directly help a healthcare company make more informed decisions relating to the treatment of NPD A & B.

In the Spotlight

Conan Donnelly

Registry Manager, INPDR

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I am from a rural part of County Armagh in Ireland, I am the youngest of a family of eight. I am married to Anna and we have four children, three boys (Eoghan, 11; Michael, 6 and Gerard, 4) and our daughter (Roisin, 9). Anna and I are both identical twins which is a bit unusual and is something that prompts lots of questions! In my spare time I like to run and cycle, I am actively involved in a local cycling club and have organized and participated in many cycling races and charity cycle events over the years.

How did you get involved with Niemann-Pick disease?
I joined the International Niemann-Pick disease Registry in March this year as Registry Manager, I started my working life as a government statistician but found my true calling in 2009 when I moved to work in the Northern Ireland Cancer Registry where I earned my PhD in epidemiology and designed and ran several population health research studies. I have worked in disease registration for over ten years now and have seen firsthand the importance of patient reported and clinical data in improving survival and patients’ quality of life. I am very excited to take what I have learned to the INPDR to help support research to improve the care and outcomes of Niemann-Pick patients ​and their families.

Why is the INPDR important to the Niemann-Pick disease community?
All clinical care planning and health research depends on high quality data, but for a rare disease such as Niemann-Pick disease, it can take a long time to collect enough data to produce evidence to demonstrate effectiveness of new therapies or to identify best practice in care. This is further aggravated by the diversity in the genetics of NPD which makes it more difficult to understand the nature of the disease and to observe significant results in clinical trials. By collecting information from both clinicians and patients in a single international registry, the INPDR provides a resource that can accelerate research activity by making datasets available to address previously unanswerable questions, it can support faster recruitment in trials and provide data to facilitate post-market monitoring of drugs for safety and efficacy purposes. 

Like other rare diseases, NPD patients and advocates face challenges in having their voice heard ​by decision makers in society. By routinely documenting the global NPD patient experience, the INPDR can act like a mirror to the NPD population and shine a light on the needs and priorities of patients.

What makes this Registry different from other patient registries?
There are a few fundamentals for any registry:  First and foremost, we must protect the safety of our patients’ data. The INDPR has robust processes and systems in place to ensure that access to identifiable data is tightly restricted and carefully controlled. But there is no sense in collecting data if it isn’t used​ ​to benefit the Niemann-Pick community. The INPDR data is not just available to a selected group of researchers, we have processes in place to safely share data to the wider NPD research, advocacy and clinical community. This way we can act as a cohesive and unifying resource that can really maximize research impact.

It is also critically important that the data collected by the registry is a faithful representation of the NPD patient experience. As patients have played a central role in the development of the registry since its inception and can routinely contribute to the patient reported database, we are confident that the with continued meaningful patient involvement the evidence produced by the INPDR will truly reflect the NPD patient experience.

How can families learn more about the INPDR or register themselves or their family members?
It is very easy to join the INPDR, simply visit our website inpdr.org and click ‘sign up’. The website also contains further information and FAQs. If you have any questions or queries about the registry, I am very happy to answer emails or have a chat over the phone or via video-conference. ​You can also connect with us via Facebook and Twitter. In addition, we are very much looking forward to participating in the NNPDF conference on July 12th. This is a great opportunity for us to meet many community members and to share information and answer questions about the INPDR.

NNPDF Pyramid Challenge 2020

Join the NNPDF Pyramid Challenge 2020! Just a few days remain to participate and be entered in a drawing for one of 3 $50 Amazon Gift Cards! Drawing will take place June 1st! REMEMBER TO TAG #NNPDFPyramidChallenge2020 and @NNPDF to be entered!

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Newborn Screening

Research Opportunity for NPC Families: A Call for Participation

The NPC Community is engaged with a multi-disciplinary stakeholder group focused on adding NPC to newborn screening lists across the country (See Firefly Fund’s newborn screening initiative.) Since adding NPC to these lists would mean that all newborns would routinely be screened for this rare disease, it’s essential to demonstrate that intervening earlier in a patient’s disease progression is better and critical to improved health outcomes.

Within our small patient community, one way that leading NPC experts believe will help us tell this story is to look at families with multiple affected children.

Why is that? Often these families will have a child who, following significant symptom onset, is ultimately diagnosed with NPC. This diagnosis will trigger specific NPC testing of another child of the same family who may be diagnosed before the onset of visible signs and symptoms. NPC expert clinicians believe that if we are able to describe the different diagnostic and clinical journeys of these children – based on timing of intervention – we could have powerful evidence demonstrating the benefit of screening for NPC at birth, and the criticalness of earlier intervention.

What will we need for this research? 1) We will need to identify families with multiple children affected with NPC, both those who are currently living as well as those who may have passed. 2) An independent third party, RDMD, is providing a secure virtual filing cabinet for de-identified medical records from NPC families so that NPC experts can analyze the data in a effort to determine: a) how closely the course of disease is similar and b) what affect the timing of an intervention has on progression of disease.

Would you like to participate or like additional information? Please contact nnpdf@nnpdf.org and we can provide some more detail and discuss how you might partner with us on this important project. Thank you!

Prolonged Grief Disorder

Author C.S. Lewis, when musing on the death of his wife, described grief as “a sort of invisible blanket between the world and me.” For most, the invisible blanket Lewis describes eventually is lifted; for others, it grows ever heavier. Grief, by its very definition, is a severe emotion felt deeply and broadly. In the face of tragedy or loss, it is expected to feel devastated and overwhelmed.

When feelings of grief persist for a significant amount of time, though, and when they impair your everyday life, this everyday emotion can lead to a disordered way of thinking and living. The Diagnostic and Statistical Manual of Mental Disorders (DSM), which classifies mental disorders in the U.S., is in the process of classifying “Prolonged Grief Disorder” as a depressive disorder. This means that one can be clinically declared as impaired by their grief, and may have significant trouble moving forward following a tragic loss. Those with Prolonged Grief Disorder, or PGD, would have an intense reaction to their loss, mourning for a period of time that stretches much longer than what is seen as normal. They may feel lost and purposeless, intensely lonely, guilty, sad, or angry, or may display a marked sense of disbelief concerning the loss.¹ They are suffering to a degree that is impairing.

This is not to say that there is anything wrong with grieving; grief is a healthy and normal reaction. Rather, the clinical term and diagnosis can help those who are suffering to deal with their loss and to find a way of moving forward. Though the DSM hasn’t officially classified PGD as a disorder yet, researchers and psychologists have already found many valuable treatments that can help people suffering from prolonged grief. Many such treatments are cognitively based, and are especially focused on interpersonal therapy. Talking through one’s grief can help to deal and come to terms with the trauma they have experienced.²

Caregivers and family members of those who are chronically ill can be disproportionately at risk for developing PGD. Chronic illness and rare diseases, like Niemann-Pick disease, and all that they entail can overwhelm daily life, and it may be hard to move forward following a loved one’s passing. It is important to take care of yourself and to establish a reliable support system.

Are you experiencing any feeling as described above?  We’re here for you. NNPDF offers family services programs to help develop support systems. Groups of different types take place weekly, and of course we are always here to talk or just listen – any day of the week. For more information on ways to connect, visit our upcoming events page.

[1] Jordan, Alexander H., and Brett T. Litz. “Prolonged Grief Disorder: Diagnostic, Assessment, and Treatment Considerations.” American Psychological Association , www.apa.org/pubs/journals/features/pro-a0036836.pdf.
[2] Weir, Kirsten. “New Paths for People with Prolonged Grief Disorder.” American Psychological Association , www.apa.org/monitor/2018/11/ce-corner.

NNPDF Announces Additional Support for its Emergency Hardship Program

Firefly Fund’s contribution will assist additional families in need

We are pleased to announce the Firefly Fund has become a donor to NNPDF’s Emergency Hardship Program. Our Emergency Hardship Program is open to US Niemann-Pick disease families facing an acute financial problem. It is supported by community donations, as well as partners including Cyclo Therapeutics, Firefly Fund, Mallinckrodt Pharmaceuticals, Orphazyme, and Sanofi Genzyme.

“Many families in the Niemann-Pick community are already facing financial pressures associated with battling a rare disease. The economic and medical stressors compounded by the COVID-19 pandemic increase the need for, and use of, our emergency fund. The Firefly Fund’s commitment to NNPDF will help us provide relief to additional Niemann-Pick Type C families and help ease the burden families are facing,” stated Joslyn Crowe, NNPDF Executive Director.

NNPDF’s Emergency Hardship Program funding provides short term financial assistance in a crisis situation. Funding is available for up to $1,000 per calendar year per eligible member. Families with multiple children with Niemann-Pick disease are eligible to apply for each affected individual. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating, cooling, electricity, phone, water and sewer), home and car repairs, rent and mortgage payments, and bereavement expenses.

“Chris and I understand first-hand the many burdens that come with a rare disease diagnosis such as Niemann Pick Type C. As we all adjust to recent burdens experienced as a result of the global pandemic, the Firefly Fund is committed to supporting families through our Patient Access Fund with a grant to the NNPDF’s Emergency Hardship Program. This NNPDF program is filling a critical need that is an important resource for NPC families,“ Pam Andrews, Co-Founder, Firefly Fund. 

Click here to learn more about our Emergency Hardship Program or contact Laurie Turner, Family Services Manager.

INPDR Update

It has been a hectic month for the INPDR.

We are making progress to support the clinical centres in the US to begin consenting patients and data entry into the Clinician Reported Database.

We are also working on several projects to set out our future strategy and undertaking operational work to make sure safety and security is verifiably of the highest standards.

Last month we explained that we had been working on reactivating existing accounts in the Patient Reported Database (PRD). This process is ongoing, but we are urging patients who have not already to sign up now.

You can be part of the patient power within the INPDR without having to leave your home by signing up. You can provide consent and add data online through our website.

You can visit www.inpdr.org to find lots of helpful information and to sign up to the PRD.

We have started a campaign through our social media channels to help patients and their families understand more about the INPDR, from how the Registry works to our aims and objectives, from learning more about our trustees to meeting the team working in the background to make those objectives happen. Hopefully you have seen some of our posts but if not, you can follow us on Facebook and Twitter to learn more.

We hope you enjoy reading a bit more about Conan Donnelly, our new Registry Manager, in the newsletter this month. Conan is already making a positive difference to the INPDR as we take steps to ensure the sustainability of the Registry, which will ensure we can achieve our objectives and bring about research and positive change for the Niemann-Pick community.

Furthermore, we are excited to take part in the NNPDF Family Support and Medical Conference. You will get to ‘meet’ Conan as well as some familiar faces. We will be offering an informative session and hope to be able to answer any questions you might have about the INPDR.

The INPDR has already had some fantastic support from the NNPDF and it is exciting to continue working together. Even though we cannot meet face-to-face for now, technology is on our side and there are still opportunities for you to make a difference and unlock the patient power within the registry.

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 Cyclo Therapeutics:

Cyclo Therapeutics Inc. announces positive top line results from Phase I Trial and Interim Analysis of Phase I/II trial using Trappsol® Cyclo™ intravenously to treat patients with Niemann-Pick disease Type C1. Click here for complete announcement.

Cyclo Therapeutics holds call for patients and investors. Click here for complete announcement.

Cyclo Therapeutics announces positive feedback from European Medicines Agency on its pivotal trial design for Trappsol® Cyclo™ for Niemann-Pick disease Type C1. Click here for complete announcement.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.

Jamberry Niemann-Pick disease Nail Wraps

Show your support in the fight against Niemann-Pick disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick disease Foundation for family support services. Click here for ordering details. Available year round.

Have you hosted a fundraiser for NNPDF recently?

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

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

April 2020

mborst

Message from the Executive Director

Dear Friends,

The month of April has been filled with challenges that we couldn’t have imagined only a few months ago. Keeping our families healthy is always a top priority and COVID19 has made this more evident than ever. NNPDF is here for you – we are here to help, to talk, to help find resources for your family, or just to listen. 

We have added more Family Services programs offering more ways to connect, share, and learn for families at all stages of the Niemann-Pick journey, and we are helping community members through our Emergency Hardship Program. Click here for our listing of programs for May! And please remember to share the information on our Emergency Hardship Program widely, it’s an important community resource.

We know that many of our families are facing challenges right now and we want to know more. In May, you will receive an email with a survey asking you to share your story with us of how COVID19 is impacting your family, please take a moment to complete this. This information will help us better assist our families with programs needed, resources needed, and also prepare us for advocacy that may be needed throughout the country.

NNPDF is grateful to all our supporters for their gifts. Your support is needed now more than ever. If you’d like to help us to continue to serve the needs of our families, we appreciate your generosity and commitment.

Fondly,

 

 

Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Pyramid Challenge 2020

Looking for something fun to do to support your Niemann-Pick Community and raise awareness of Niemann-Pick disease? Join the NNPDF Pyramid Challenge 2020 and show us how YOU pyramid!

From now through May, post and share your creative pyramid on social pages. Go big or go small. Use #NNPDFPyramidChallenge2020 and @NNPDF in your caption to be entered in a drawing for one of three $50 Amazon Gift Cards! Enter as many times as you like!

Challenge your friends to “Do or Donate $20” to the NNPDF to help support Niemann-Pick families. Remember to tag #NNPDFPyramidChallenge2020 and @NNPDF.

NPD community… Show us how YOU pyramid!

NNPDF Family Support & Medical Conference

VIRTUAL CONFERENCE
July 10 – 12, 2020


Registration Opening Soon!

In the Spotlight

Kari Ezell
Mother of Corbin Edwards
(3/28/2017 – 9/10/2019) ASMD

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
My name is Kari Ezell and I was born and raised in a little town called Roanoke Rapids, North Carolina. Everyone knows one another in some way. There are creeks and a river. In the summer everyone likes to float the river but what I enjoy doing is being a stay at home mother to my 12 year old son, Kaleb and my 1 year old daughter, Caleesi. We are a very close family. I enjoy watching them have so much joy and laughter. They’re just so full of life. In my down time, I like to try out crafts.

When did receive your diagnosis? What led you to diagnosis?
When Corbin was born, he was a healthy baby boy. Just absolutely perfect. Around 3 months old, I began to worry about his development. He wasn’t doing anything that he should have been doing at his age. I brought these concerns up to the doctor but he said we had for wait until Corbin was 9 months old before he could be referred to physical therapy. In December of 2017, Corbin became very sick. His doctor found his liver and spleen to be enlarged. Corbin was then transferred to Greenville NC to Vidant Children’s hospital. He was diagnosed with RSV. Corbin underwent a liver biopsy. We were warned he may have a metabolic disorder. In January of 2018 the biopsy results showed white foaming cells. It was then sent to California for further testing. A couple of weeks later we got the news at Corbin’s doctor’s appointment that it was Niemann-Pick disease. We were referred to genetics where we learned about the different types and we were told they believed Corbin had type A. On February 22nd, I received the phone call that would change our lives forever. Corbin’s doctor confirmed Corbin in fact did have type A.

What were the first steps you took after diagnosis?
The first thing I did after receiving the results, I started to google this disease but information was scarce. I began to search Facebook and found Save Purnell. That’s when I really began to find others. I reached out and then I received a message from Melissa. She told me about this doctor in New York who specializes in this disease. I began to research Dr. Wasserstein and on May 1st we had Corbin in New York to meet with her.

How did you learn about NNPDF?
I learned about the NNPDF through a friend that had originally reached out. I reached out and was swarmed with support. It felt so good to know I wasn’t alone in this nightmare. I immediately sent a request to become a member of the group and was accepted into this new family.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
The NNPDF has been amazing to my family. They’re always there when you need them. They check in. They care. The NNPDF donated to Corbin’s funeral fund. I was and still am truly grateful. My goal is to make others feel as welcomed as I did. I have people to reach out to me and it feels good to know I can help in some way and the children are just precious. I get to see and learn new things from these other parents just as they learn from me.

What changes have you seen in the Niemann-Pick environment over the past few years?
I have been seeing positive news about gene replacement therapy and it is so great. We need a treatment and cure. Not just a treatment for the symptoms.

What are your hopes for the future for yourself and for the Niemann-Pick community?
My biggest hope is that ASMD can be added to the newborn screening. If we can find out sooner that our children are sick, we can get help more quickly. I truly believe if we can get this news sooner that it will help keep others from being misdiagnosed. Which happens too often in the rare disease community. We need to raise awareness as much as possible in order for this to reach others. If people don’t know, they can’t help or help share our journeys. It’s important we let our voices be heard.

Newborn Screening

We are excited to announce the NNPDF Research Fellowships are OPEN for 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 18 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.

NNPDF Research Fellowship Applications

New Research Project Coming from the NPC Newborn Screening Working Group

The NPC community is engaged in a multi-stakeholder effort to add NPC to newborn screening lists across the country (See Firefly Fund’s newborn screening initiative.) Since adding NPC to these lists would mean that all newborns would routinely be screened for this rare disease, it’s essential to demonstrate that intervening earlier in a patient’s disease progression is better and critical to improved health outcomes.

Within our small patient community, one way that leading NPC experts believe will help us tell this story is to look at families with multiple affected children.

Why is that? Often these families will have a child who, following significant symptom onset, is ultimately diagnosed with NPC. This diagnosis will trigger specific NPC testing of another child of the same family who – if affected – may be diagnosed before the onset of visible signs and symptoms. If we are able to describe the different diagnostic and clinical journeys of these children – based on timing of intervention – we could have powerful evidence demonstrating the benefit of screening for NPC at birth, and the criticalness of earlier intervention.

Please stay tuned to the NNPDF Newsletter and other NPC community information channels for an opportunity to participate in this important research project. Thank you!

Application deadline is June 1, 2020

NNPDF Cora Sterling Endurance Award

Do you know a great young person who shines for Niemann-Pick awareness?

The 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 15th.

CLICK HERE for complete nomination details!

NNPDF Emergency Hardship Program

In this unprecedented time of COVID-19 the NNPDF Emergency Hardship Program can help with short term financial assistance to qualified NNPDF U.S. member families facing financial difficulties. For more information click here.

NPC Perspective

By Debbie Kaflowitz
Mother of Rachael (06/21/1985 – 10/25/2018) NPC

Hi Everyone,

I’m sorry you haven’t heard from me in a while. I try to stay positive in my articles, but sometimes there is just too much reality going on. This past fall was a series of triggers of grief over Rachael’s passing. Sept 8th was the one-year anniversary from Rachael entering the hospital. Shortly afterwards, was our first Rosh Hashanah and Yom Kippur without her. October 25th marked the first anniversary of her death and on November 4th we had the unveiling of her headstone. I thought I had my act together when Thanksgiving snuck up on me, which had always been Rachael’s favorite holiday. However, throughout this time, whenever I posted something on Facebook, my NPC family always came through with posts of love and support. Thank you. And now we have Covid-19, so stay safe and healthy.

It has been said that happiness comes from feelings of belonging and success. Many adult onset children are lucky to have experienced both. However, as our adult children begin to decline, these opportunities become fewer and fewer. Peers move into the adult world with college, jobs, marriages, and children. Our children move backwards, and the worst part is, at least for a while, they are quite aware of what is happening. Feelings of loneliness and uselessness set in. 

How do we fill their days with activities that make them feel successful and provide social opportunities? They want peers, not parents. As we, the parents get older, it becomes more difficult both physically and emotionally to fulfill our child’s needs.

The two biggest challenges are that programs and procedures vary from state to state, so there aren’t a series of steps I can give everyone to follow. Secondly, our children’s needs change as they decline, so a program that is a good match at age 20, might not be a good match at 22. On my Facebook page, “Aging with NPC,” I asked families of adult onset children what their child did during the day. The answers ranged from children sitting at home watching television, playing video games and just hanging out with children who were active with part-time jobs, a variety of therapies, and day programs.

What can you do to find the best daytime activities that meet the needs of your child and your family? There is no easy answer. I once saw a Facebook post that said something like “The parent of a child with a rare disease can dig up more information than the FBI.” That is so true. You’ve already become mother/father, caregiver, advocate, doctor, nurse, and specialist. It’s now time to put on a new hat, detective.  

The first step is to look into state agencies. You can find these on the Internet under your state government. In New Jersey, we have DVR (Division of Vocational Rehabilitation) and DDD (Division of Developmental Disabilities). Rachael started with DVR when she graduated from her age-out program. DVR’s goal was to find employment for her with possible job coaching. Rachael’s support coordinators didn’t understand her. At this point, Rachael looked absolutely fine on the outside. However, her cognitive ability, especially following directions, and the ability to read social situations had declined. It soon became clear that she wasn’t functioning high enough to hold a job.

Rachael was then passed to DDD. Their job was to support day programs or other activities for Rachael. We received a case manager and a budget based on an evaluation. Rachael could use that money the way she wanted, as long as it was something on the approved DDD list. These case managers were not well versed in programs, so I wore my detective hat every minute I wasn’t teaching or sleeping. What a challenge! Rachael was high functioning in many ways. She loved arts and crafts, singing, and dancing. She had a wonderful way with young children. She still saw herself as a functioning adult. She didn’t want to be with “disabled” people because, according to her, she wasn’t one of them. We saw programs where people sat, doing one task all day long with some television breaks and places where there was little to no interaction among the clients. These were way too low functioning for Rachael.

Then there were programs mostly for drug and alcohol recovery or for people who had just taken wrong turns in their lives. These programs used discussion groups as their main focus, and with Rachael’s cognitive decline, discussion groups didn’t work. They also had minimal supervision because they were trying to get people back on their feet to operate in the real, adult world.

Rachael spent a lot of time at home, which were difficult years. Luckily, for the last 5 years of Rachael’s life, we were able to piece together the best programs and extra support possible for Rachael. We found two programs on the DDD list that worked. Two days a week, Rachael went to the WAE Center, (Wellness, Arts, and Enrichment) which was run by the Jewish Division of Developmental Disabilities. You didn’t have to be Jewish to attend. They served a variety of disabilities, such as blind, deaf, Asperger’s, developmentally challenged, etc. The staff members were wonderful, professional, caring people. They sang, cooked and provide exceptional art activities. Rachael didn’t make any friends to socialize with outside the center, but during the day, the staff had a talent for promoting interaction among the clients. Rachael and the staff members bonded, since she was higher functioning than many of the clients.

Rachael also spent 2 days a week at a rehab center called Universal Institute. It is actually for traumatic brain injuries, but they accepted Rachael. They too had a variety of classes that kept Rachael occupied and happy. There are several of those around the country, so you can check the Internet.  

Lastly, we used care.com to find two women around Rachael’s age, one for a few hours on Monday and one for a few hours on Sunday. At first, they would go out to lunch, run some errands in town and spend time at the library. When Rachael’s decline made running errands too difficult, they would do art projects at home or watch a movie together. Care.com is nationwide. You do need to interview and check references for anyone you hire because care.com doesn’t do a thorough job. We paid them ourselves. I did need to try a variety of people before I found exactly the right match. One key for care.com is writing a good description of the kind of person you need. I would be happy to help you write the description, just email me at kaflowitz@aol.com

A NJ state financial-help program called The Preferred Preference Program was started about 2 years before Rachael passed. The goal of the program was to help people hire their own help, which included friends and family members. We could make Steve the employer and me the employee. After an evaluation, we received a specific number of weekly hours at a set rate. Each month, after I filled out and sent in a time sheet, we would receive a check that we used to defray other medical, program, transportation, and aide expenses we had for Rachael. You could use this money to pay anyone, such as a friend, an adult around you child’s age, a college student, anyone.

Many other adult onset families face the same challenges we did. Below are some activities that have worked for them.

Several people found one-to-one trainers at a gym who work with their children 1-3 times a week. You do need to find someone who understands the special needs of your child. For most of these places you need to pay yourself. 

Don’t discount day programs that are more for the elderly population. Rachael always bonded more with the staff than the clients, anyway. The elderly also enjoy someone younger, so other bonds can occur.

Look for an art or music therapist. Rachael’s budget paid for an art therapist once a week through a program called Arts Unbound. Unfortunately, they closed down due to lack of funding.

See if there are any water therapy times at your nearest Y. 

In Minnesota, a program called CDCS sounds very much like New Jersey’s Preferred Preference Program. Havi Martinez has more specific information. She can be reached at havij89@gmail.com.

Havi also knows about a program called HopeKids, which is available in Minnesota, Arizona, Colorado, Middle Tennessee, North Texas, and Kansas City. According to Havi, it’s designed for children with life limiting illnesses, but if your child has aged-out of everything else, they sometimes continue helping people.

If you are tired of being a detective and would like me to look at your state website to find some leads, I will be happy to do so. Just email me at kaflowitz@aol.com.

INPDR Update

During our last update we gave assurances that our work would continue despite the COVID-19 pandemic. While this remains true the impact on clinical sites has enabled us to focus on the Patient Reported Database (PRD).

We have successfully tested the account reactivation process and those of you who already have a PRD account or have registered your interest before will soon receive an email to let you know what steps you need to take now that the PRD is back up and running.

If you have a PRD account or you have registered your interest online, please let us know if you have not received an email within the next two weeks about reactivating or setting up your account.

We are continuing to work with several clinical centres in the US and globally to enable clinicians to add patient data to the Clinician Reported Database (CRD). However, with the pressure of COVID-19 being felt so strongly from a clinical point of view, appointments with your physician may have taken a different form. If your physician or treatment centre isn’t signed up to the CRD or you haven’t given informed consent for your data to be added, you can mention it during your next appointment. We are always happy to help clinicians, patients and their families learn more about the Registry and get set up so please get in touch for more support.

In the meantime, now is as good a time as any to get involved with the Patient Reported Database and share your experience of living with Niemann-Pick disease.

Patients have always been at the heart of what we do and together we can harness the power of patient data and experience. Until we see some return to normality after the COVID-19 pandemic, the PRD is an opportunity for you to be part of that patient power without having to leave your home as sign up, consent and data are all done online through our website.

During our last update, we were excited to welcome Dr Conan Donnelly as our new Registry Manager. Already Conan has been making positive progress working with the team to develop our Business Plan, which will ensure we continue to work towards our objectives to make sure the INPDR supports the development of treatments, improved understanding and diagnosis and better quality of care – all through harnessing the power of patient data and experience, as well as ensuring the sustainability of the INPDR.

You can find more information and access the Patient Reported Database on the INPDR website www.inpdr.org. Plus don’t forget you can connect with us on Facebook @INPDR Twitter @inpdr_tweets and LinkedIn.

Over the next few weeks, we will be running a campaign across our social media channels to improve understanding of the INPDR, who we are and what we can achieve together. If you are already signed up to the Clinician Reported Database and/or the Patient Reported Database and would like your story featured, please get in touch with our Communications Consultant, Ange Wilson at angela.wilson@inpdr.org.

As ever global pandemic or not we hope you are all keeping safe and well during these uncertain times.

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 Cyclo Therapeutics:
Cyclo Therapeutics Inc. announces that it has closed a private placement of its securities with a group of accredited investors. Click here for complete announcement.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.

Jamberry Niemann-Pick disease Nail Wraps

Show your support in the fight against Niemann-Pick disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick disease Foundation for family support services. Click here for ordering details. Available year round.

Have you hosted a fundraiser for NNPDF recently?

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

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

March 2020

mborst

Message from the Executive Director

Dear Friends and Families,

The world has changed a great deal since our last Newsletter. The COVID19 pandemic is creating unprecedented challenges in our daily lives. This may be physical health, mental health, economic, or social. New terms like social distancing and self-isolation have entered our vocabulary. For the rare disease community, the health risks and potential complications can be high and additional challenges to medical supplies, medical appointments, and care services may have already been encountered by some. Stress levels are exacerbated for everyone, and this is especially noted in rare disease families who are already faced with higher stressors on a daily basis.

We are proud to have a Scientific Advisory Board working on the front lines is hospitals across the country. We are especially proud of our NNPDF Board Chair, Dr. Justin Hopkin, who is working tirelessly in his capacity as a physician at Rochester University Medical Center.

NNPDF is here for you. Now more than ever, it is vital that we support one another and support our community. We will continue to fight for access to treatments and to carry your voice to the FDA. We will continue to provide family services programs for you, such as our upcoming webinar on Self-Care: Taking Care of You in Challenging Times, which will include a guided meditation. Watch for other programs over the next few weeks designed to create virtual gathering to connect with one another and decompress.

We know that everyone is wondering whether our annual Family Support & Medical Conference will still take place in early July. We are monitoring the COVID19 situation closely and realize that plans are in flux right now. We believe that it is important for our Niemann-Pick community to have the opportunity to come together in-person each year for our Family Support & Medical Conference. We know that our clinical and family services sessions provided at our Conference are important to you, and moreso, the shared experience of simply being together with friends and those who “just get it” is invaluable.

The health and safety of our families is our primary concern. We are following the Centers for Disease Control (CDC) recommendations and consulting with our clinicians and how the virus impacts gatherings, travel, our families and the conference. We are currently monitoring our July date as well as looking at alternate dates that may be possible. We will continue to assess the situation and update you in a few weeks with any new information regarding the status of the conference.  

On an exciting note, NNPDF has recently begun preparing to conduct a survey of the U.S., Niemann-Pick disease community to further understand the patient and healthcare provider experience in Niemann-Pick as it relates to health insurance knowledge, coverage, as well as the burdens experienced by patients and their families pertaining to access of medications, services and devices. This is one of several advocacy campaigns prioritized for the Niemann-Pick community over the next 2 years. It will be the most comprehensive survey of the Niemann-Pick health insurance landscape to be conducted in the U.S. and will allow us to better support you.

And speaking of Supporting One Another, I hope that you’ll take a moment to build a pyramid and be part of our #NNPDFPyramidChallenge2020! From now through May, post and share your creative pyramid on social pages. Go big or go small. Use #NNPDFPyramidChallenge2020 and @NNPDF in your caption to be entered in a drawing for one of three $50 Amazon Gift Cards! You can enter as many times as you like! Don’t forget to challenge your friends to “Do or Donate $20” to the NNPDF to help support Niemann-Pick families. Remember to tag #NNPDFPyramidChallenge2020 and @NNPDF.


Warm wishes,

 

 

Joslyn Crowe,
Executive Director
jcrowe@nnpdf.org

NNPDF Pyramid Challenge 2020

Looking for something fun to do to support your Niemann-Pick Community and raise awareness of Niemann-Pick disease? Join the NNPDF Pyramid Challenge 2020 and show us how YOU pyramid!

From now through May, post and share your creative pyramid on social pages. Go big or go small. Use #NNPDFPyramidChallenge2020 and @NNPDF in your caption to be entered in a drawing for one of three $50 Amazon Gift Cards! Enter as many times as you like!

Challenge your friends to “Do or Donate $20” to the NNPDF to help support Niemann-Pick families. Remember to tag #NNPDFPyramidChallenge2020 and @NNPDF.

NPD community… Show us how YOU pyramid!

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NNPDF Family Support & Medical Conference

Friends,

We are monitoring the COVID19 situation closely and realize that plans are in flux right now. We believe that it is important for our Niemann-Pick community to have the opportunity to come together in-person each year for our Family Support & Medical Conference. We know that our clinical and family services sessions provided at our Conference are important to you, and moreso, the shared experience of simply being together with friends and those who “just get it” is invaluable.

The health and safety of our families is our primary concern. We are following the Centers for Disease Control (CDC) recommendations and consulting with our clinicians and how the virus impacts gatherings, travel, our families and the conference. We are currently monitoring our July date as well as looking at alternate dates that may be possible. We will continue to assess the situation and update you in a few weeks with any new information regarding the status of the conference.  

Please stay safe and follow the recommended healthcare guidance on COVID19.  As always, we are available for any questions.

Taking Care of You: Self Care in Challenging Times

Are you searching for manageable ways to take some time to care for yourself especially during moments of stress and uncertainty?

Please join NNPDF and NTSAD as we jointly present the upcoming forum Taking Care of You: Self-Care in Challenging Times led by Shoshanna Hecht, LCSW, on Wednesday, April 1, 2020 at 2:00 pm EST/11:00 am PST via Zoom Webinar.

This community forum will include practical tips on manageable, every day self-care, a guided meditation, and time for Q&A.

Shoshanna Hecht is an Executive and Personal Coach based in New York City, with previous experience of over 10 years as a clinical therapist on the west coast. Shoshanna also leads guided meditations to boost confidence while reducing stress, self-doubt, and overwhelm. They can be found both on her website and on the Meditation Studio App named one of Apple’s 10 Best Apps of the Year.

 

Volunteers Needed

Thank you to those of you that have shown interest in volunteering for the NNPDF! Your time is invaluable to our NPD community. We are currently collecting resumes and letter of interest from those interested in volunteering skills and time to assist with focus groups, committee teams and even as a Board member. If you are interested in becoming a NNPDF volunteer, please let us know at jcrowe@nnpdf.org and we will follow up with you with the process for applying.

Please send all letters of interest by April 15th.

In the Spotlight

Tell us a bit about yourself, such as where do you live and what do you enjoy doing
I go by “Dee”. I am one of six children, and the only one to be ‘gifted’ with NPC. As a teenager I used to re-build car engines and street race. I am the mother of one and the “Nonna” of one. I used to love crafting and scrapbooking.  

When did receive your diagnosis? What led you to diagnosis?
In 2005 the neurologist I was seeing for migraines noted that I had some slurred speech and some minor gait issues. This disease is insidious for very late on-set. In 2011, I was struck with Bell’s Palsy, but it never totally resolved, sort of began my downfall. It wasn’t until a gap of about 18 months of not seeing that neurologist and him recognizing that something was really wrong that my diagnosis began. I was first diagnosed with Spino-cerebellar Ataxia – by MRI showing cerebellar atrophy and simultaneously by my speech therapist. What kind of SCA led to genetic testing. The first panel was inconclusive and suggested Sialadosis – but only one allele in an autosomal recessive disease. I was referred to NIH, had an exome sequencing, inconclusive. Finally, I was referred to the geneticist at Walter Reed (my husband is retired military). The geneticist also works at NIH with one of the doctors who works in the Undiagnosed Diseases Program. In May of 2018 I was evaluated by the UDP – 42 vials of blood, untold scans, pokes, testing in 4 days. Results were provided in Aug 2018, I have NPC1, only one allele, but the oxysterols are there to provide diagnosis. So, at age 59 I was diagnosed with a disease that hits infants, children, and if diagnosed late, teens.

What were the first steps you took after diagnosis?
After diagnosis I met with the doctor who leads the NPC program at NIH and was entered in a natural history study, more test, etc. Thank the Lord for the Interwebs. I was able to research the disease, and learn more about it.

How did you learn about NNPDF?
The Interwebs, what more to say.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
As an adult onset patient, I wanted to know more – for my own understanding. Now having seen other patients and families, I see we are all in this together. What helps one, helps all.

What changes have you seen in the Niemann-Pick environment over the past few years?
I haven’t been involved long enough to recognize the changes. However, if you look at the literature, you will see that five years ago, the general message was that NPC was a rare debilitating disease, and everyone had passed on by age 40. Today I’m aware of at least three clinical trials that are improving symptoms, quality of life, and reducing the impact of this disease.

What are your hopes for the future for yourself and for the Niemann-Pick community?
I just completed a phase one clinical trial. Before the trial, I would choke on food or drink at least once per day, often more. Particulate pneumonia is a leading cause of death in NPC patients. After seven doses, at two-week intervals, I am down to choking and coughing about once per week. My speech is also noticeably improved. I am now looking to extend access to the treatment drug. I just need to deal with symptom regression waiting on those infusions.

As for the community, I see the family and those afflicted are united and supportive. I’d like to see the same in the research and medical community.

NNPDF Research Fellowship Applications

We are excited to announce the NNPDF Research Fellowships are open for 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 18 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, 2020

Rare Disease Week on Capitol Hill Summaries

Rare Disease Week on Capitol Hill took place in Washington DC during the last week of February, where rare disease advocates were given the opportunity to meet with Members of Congress and to learn about policy updates and best practices for successful advocacy. A special Thank You to Margo Frey, Havi Martinez, Anne OConnor Smith, and Shannon Reedy for attending this event on behalf of you, the Niemann-Pick community.

Click below to read the 

Rare Disease Week on Capitol Hill took place in Washington DC during the last week of February, where rare disease advocates were given the opportunity to meet with Members of Congress and to learn about policy updates and best practices for successful advocacy. A special Thank You to Margo Frey, Havi Martinez, Anne OConnor Smith, and Shannon Reedy for attending this event on behalf of you, the Niemann-Pick community.

Click below to read the summaries of their learnings and experiences.

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NNPDF Launches Important Community Survey

Survey will be the most comprehensive of the Niemann-Pick insurance landscape conducted in the US

The NNPDF has recently begun preparing to conduct a survey of the U.S, Niemann-Pick disease community to further understand the patient and healthcare provider experience in Niemann-Pick as it relates to health insurance knowledge, coverage, as well as the burdens experienced by patients and their families pertaining to access of medications, services and devices.

This is one of several advocacy campaigns prioritized for the Niemann-Pick community over the next 2 years. The survey will identify health insurance usage, access, and barriers across the country. The survey will also allow us to better understand where the community may need more tools or assistance in understanding the complexities of health insurance. The data gathered from this national survey will provide a credible quantitative platform for NNPDF when speaking with legislators, key opinion leaders, and media about access to medications, pricing, economic impact, or legislative reform. This is the most comprehensive survey of the Niemann-Pick health insurance landscape to be conducted in the U.S.

We are excited to work with Engage Health, Inc., a health research firm on this project. The firm is led by Patti Engel who brings over 25 years of experience in orphan and specialty products to her work and has developed similar tools for other rare disease communities. Engage Health, Inc. has a long history of conducting market research and PRO research in the rare disease space. Ms. Engel was the keynote speaker at the NNPDF Family Support & Medical Conference in 2019 and spoke to challenges & realities for the Niemann-Pick community during the regulatory process and post-approvals.

The survey will open to the Niemann-Pick community for participation in late spring/early summer and will consist of an online survey followed by a phone interview. The data gathered in the survey will be published and shared publicly once complete.

NNPDF Community Update Webinar Series

Join us for our Community Update webinar series upcoming events! We have a fantastic line up for you. Visit our Upcoming Webinars webpage for all webinar information.

Community Update Webinar Series featuring Newborn Screening
Monday, April 20, 2020 | Click here to register!

Community Update Webinar Series featuring Mallinckrodt
Monday, April 27, 2020 | Click here to register!

Community Update Webinar Series featuring Sanofi Genzyme
Wednesday, May 6, 2020 | Click here to register!

Community Update Webinar Series featuring IntraBio
Sunday, May 17, 2020 | Click here to register!

INPDR Update

The INPDR would like to take this opportunity to wish all our friends and families in the NNPDF community well. We hope you are all keeping safe and healthy and making use of any support available. If the INPDR shows us anything, it’s that we’re stronger together so please keep in touch. The work of the INPDR continues despite the challenges we now face because of the COVID-19 pandemic.

If you haven’t been following the progress of the INPDR recently, now is the time to take notice.

We have made some very exciting changes to the Registry over the last year, which will improve the quality and quantity of data held in the registry, as well as opportunities to collaborate with the Niemann-Pick disease community and key stakeholders, including clinicians, researchers, regulators and industry.

The electronic data capture (EDC) system has been migrated to a new host, OpenApp Ltd, based in Dublin, Ireland, which has included redeveloping the Clinician Reported Database and Patient Reported Database to be more user friendly, secure and insightful.

The work we are doing will make sure the INPDR supports the development of treatments, improved understanding and diagnosis and better quality of care – all through harnessing the power of patient data and experience.

We also have a new Registry Manager in place, Dr Conan Donnelly, who brings with him a wealth of skills, including a research background and direct experience of managing patient disease registries. We welcome Conan to the Registry Management Team as he will enhance the knowledge and specialisms of our strong team. Please expect to see a lot more of him over the coming months.

The INPDR website has also been updated and you can now connect with us on Facebook @INPDR Twitter @inpdr_tweets and LinkedIn . We had been planning on attending several events this year. As is the case for many, this is no longer possible, but we are still making our presence known and taking part online where the option is available. The INPDR have always recognised how technology can support the work we do and enable the Niemann-Pick disease network – this has never been so well demonstrated as it is now.

You may already know that the Patient Reported Database has been out of action while we made these important changes. It is now back up and running so we will be directly contacting patients and their families who have already signed up to the Patient Reported Database to reactivate their accounts. If you already have an account, please look out for our emails and keep an eye on our social media channels for updates.

As part of launching the new website and EDC system, we will also be running a campaign to improve understanding of the INPDR, the short- and long-term benefits for the community and encourage more patients and their families to sign up and share their data either through the clinician reported database and/or the patient reported database.

The NNPDF continue to be highly valued supporters of the Registry and the INPDR will be working with them on a few projects, including regular updates in the NNPDF newsletter and a webinar, so please look out for them. We will also be updating the information on the NNPDF website so if you have any thoughts about what you would find useful, please get in touch with Ange Wilson (angela@inpda.org).

The INPDR is a global gateway to a lasting legacy so your participation is as valued now as it’s always been.

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 Cyclo Therapeutics:
Cyclo Therapeutics announces Positive Safety Profile of its drug Trappsol® Cyclo™ in the treatment of Niemann-Pick disease Type C. Click here for complete announcement.

Cyclo Therapeutics announces positive feedback from FDA on its Pivotal Trial Design for Trappsol® Cyclo™ for Niemann-Pick disease Type C1s. Click here for complete announcement.

Updates from IntraBio:
IntraBio receives Fast Track Designation from FDA for IB1001 treatment of NPC. Click here for complete announcement.

IntraBio announces extension phase for NPC accepted in the United States. Click here for complete announcement.

Update from Orphazyme:
A message from Orphazyme has been shared to the global community of patients, family members and healthcare providers impacted by the corona virus pandemic (COVID-19). Click here for complete announcement.

Therapeutic Updates

Gene therapy is an experimental technique that uses genes to treat or prevent diseases that have no cure. This promising technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery. Visit our Gene Therapy web page for up to date information on all gene therapy updates.

Update from Evox Therapeutics:
Evox Therapeutics and Takeda Sign Multi-target Rare Disease Collaboration. Click here for complete announcement.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.

Kate Wills, Miss Urbana’s Outstanding Teen 2020

Dreams for Dillon – Inspiring young people to use their gifts and talents for good

Kate is an Urbana resident and a sophomore at Urbana High School. She was crowned Miss Urbana’s Outstanding Teen 2020 this past November and is now on a journey to become Miss Maryland’s Outstanding Teen 2020 and Miss America’s Outstanding Teen 2020. Kate has a passion for dance and loves performing with the Urbana Dance Studio. She is planning to study medicine and to ultimately obtain a profession as a pediatrician.

Kate’s platform is Dreams for Dillon, where she hopes to raise awareness of Niemann-Pick disease, raise funds for the people working toward a cure, all while sharing the message that not everyone has the same abilities and gifts, so they should take advantage of their own gifts and talents and use them to be their best self and to give back to others. Kate’s friend Dillon Papier didn’t have that opportunity because the Niemann-Pick disease took his abilities from him. An excerpt  from her platform reads, “As Miss Maryland’s Outstanding Teen, I will have the opportunity to reach a wider audience, build greater awareness, and increase the likelihood of finding a cure for kids like Dillon all while spreading the very important message that all young people should use their gifts and talents to make the world a better place and be their best self.” Kate is excited for the year ahead as she educates others about how they can make a difference and inspire those in her community to believe that their voice matters.

Kate will be competing in Miss Maryland’s Outstanding Teen 2020 (June) and Miss America’s Outstanding Teen 2020 (August). The NNPDF wishes all the best to Kate in her upcoming endeavors!

Jamberry Niemann-Pick disease Nail Wraps

Show your support in the fight against Niemann-Pick disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick disease Foundation for family support services. Click here for ordering details. Available year round.

Have you hosted a fundraiser for NNPDF recently?

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

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

February 2020

mborst

Message from the Board Chair

NNPDF Community,

Recently NNPDF Executive Director, Joslyn Crowe, and I attended the annual WORLD (We’re Organizing Research on Lysosomal Diseases) scientific meeting. This 16th annual meeting has grown to be the largest of its kind in the world with over 2000 attendees. This is my third WORLD meeting, and the focus on Niemann-Pick was significantly higher than previous years.  

Dr. Melissa Wasserstein spoke about her NIH-sponsored, comprehensive newborn screening pilot program “ScreenPlus.” This study will screen newborns in several NY hospitals for approximately nine lysosomal storage diseases including both ASMD and NP-C. The NNPDF will be an active participant in this pilot, providing support to newly diagnosed patients and families.  Pam Andrews from the Firefly Fund and I are members of the Community Advisory Board. We anticipate this pilot to be very helpful as we work to expand newborn screening for Niemann-Pick diseases. A presentation by the Firefly Fund on its NPC Newborn Screening Working Group and the “ScreenPlus” program will be part of the NNPDF Community Update Webinar Series.

In the NP-C space, there were posters highlighting clinical data on several investigational compounds (adrabetadex, arimoclomol, and Trappsol Cyclo) that are currently being studied through FDA-approved clinical trials in the U.S.  Cyclo Therapeutics, Mallinckrodt, and Orphazyme will be sharing information on their clinical programs during the upcoming Community Updates Webinar Series. In addition, Dr. Marc Patterson presented biomarker data in NP-C patients receiving arimoclomol.

In the ASMD space, Dr. George Diaz presented preliminary data from the pediatric ASCEND trial. Dr. Margaret McGovern’s team presented data on the natural history of ASMD. Dr. Melissa Wasserstein delivered a symposium on ASMD diagnosis and disease burden, and Dr. Ed Schuchman spoke about ceramide as it pertains to the pathophysiology in ASMD during his symposium. Sanofi will also be sharing information on their clinical program in our webinar series.

Shaun Bolton reported on data from the first 6 years of the International Niemann-Pick disease Registry (INPDR). Interest in the INPDR within the rare disease community continues to grow because of its unique design: entirely patient-owned and global. Your participation will be critically important in maintaining and expanding the value of our registry. The NNPDF will continue to champion the expansion of the registry in the U.S. We will be sharing more information in the coming months about how you can ensure you get enrolled in both the Patient and Clinical arms of the registry.

Joslyn and I were able to meet with the scientific, clinical, and industry leaders in our community. We will be reporting back to the NNPDF and INPDA boards in the coming weeks. Both of us left the conference with a sense of excitement about the positive results we saw as well as the productive interactions we had. If you have any questions, please don’t hesitate to reach out to me or our NNPDF staff.

Best wishes,

 


Justin Hopkin, MD
NNPDF Board Chair
jhopkin@nnpdf.org

NNPDF Community Update Webinar Series Launches, featuring Orphazyme

Join us as Orphazyme presents in the NNPDF Community Update Webinar Series on Sunday, February 23rd at 2:00 pm EST/11:00 am PST.

Speakers and panelists for the webinar include Kim Stratton, Orphazyme CEO, Thomas Blaettner, Chief Medical Officer, Molly Painter, President Orphazyme, U.S., Marc Patterson, MD, Professor of Neurology, Pediatrics and Medical Genetics at Mayo Clinic and Regan Sherman, Orphazyme Patient Advocacy Relations Lead.

This will be the first webinar in the 2020 NNPDF Community Update Webinar Series, a series designed to provide hour-long updates on issues impacting U.S. Niemann-Pick disease families, including clinical updates and educational updates on issues relevant to our community. Join us LIVE when possible to see the full webinar—the Question & Answer discussion can only be seen at the live presentation. All webinars in this series will be posted online following the event for viewing at any time throughout the year. Registration is required in advance for each webinar.

Rare Disease Week on Capitol Hill

What is Rare Disease Week on Capitol Hill?
Rare Disease Legislative Advocates (RDLA), a program of the EveryLife Foundation for Rare Diseases, will bring together over 800 patients, caregivers, and others in Washington, DC for a week of events dedicated to empowering patients, families, friends, and healthcare professionals to become legislative advocates. During the week of February 24 – 29, 2020, rare disease advocates will have an opportunity to meet with Members of Congress and to learn about policy updates and best practices for successful advocacy.

Why is Rare Disease Week important to the Niemann-Pick disease community?
As part of the Niemann-Pick community, we are all advocates and our voices matter. Building awareness about rare diseases like Niemann-Pick disease is so important, and Capitol Hill week is a great opportunity for our voices to be heard.

Rare Disease Week is an opportunity for our community to increase awareness, learn about policy updates, and educate our policy makers about the challenges we face, and needs that we share, in living with Niemann-Pick disease.

NNPDF Advocacy Stipend
A limited number of stipends were offered by the NNPDF to Niemann-Pick individuals or caregivers to attend Rare Disease Week on Capitol Hill in Washington, DC from February 24 – 29, 2020. Congratulations to the following stipend recipients: Margo Frey, Gail Koujaian, Anne OConnor Smith, and Shannon Reedy. We are eager to read the summaries of their learnings and experiences in the March issue of the NNPDF Newsletter.

Rare Disease Day – February 29th

To raise awareness for Niemann-Pick disease and Rare Disease Day the NNPDF has created a custom frame for your Facebook profile pictures. Also, please feel free to display and share the NNPDF Rare Disease Day Facebook banner to promote awareness.

To add the NNPDF Rare Disease Day frame to your Facebook profile picture:

  1. Go to facebook.com/profilepicframes and log in to your page.
  2. Search for “NNPDF Rare Disease Day 2020” frame and click selection.
  3. Click “change picture” in the upper right of the frame window to change your photo if desired.
  4. Adjust to fit by using slider at bottom of frame, set duration preferences if desired and click “use as profile picture” button.
  5. You may also do this by selecting “update” on your profile photo from your profile page, select add frame, and search for the “NNPDF Rare Disease Day 2020” frame.

NNPDF Family Support & Medical Conference

Registration details will be coming soon for the 2020 Family Support and Medical Conference! Conference program dates are July 9 – 11, 2020 in San Antonio, Texas, with a SPECIAL EVENT you don’t want to miss on Sunday, July 12th.

Sunday, July 12th, the NNPDF is planning a Family Fun Day at Morgan’s Wonderland, Ultra-Accessible Theme Park. This is a time for families and friends to gather and HAVE FUN in a worry free environment. Morgan’s Wonderland was designed with special-needs individuals in mind and built for everyone’s enjoyment. Morgan’s Wonderland offers 25 ultra-accessible™ attractions, sprawled across a 25-acre oasis of inclusion. From a wheelchair-accessible Ferris wheel to catch-and-release fishing, there is truly something for everyone to enjoy!

The NNPDF has shared an Agenda at a Glance for our conference programming overview. More details will be provided in upcoming days. In the meantime, please include Sunday, July 12th in your family conference travel plans! Click here for more details about Morgan’s Wonderland.

CONFERENCE REGISTRATION OPENING SOON!

Into the Spotlight

Dr. Ed Schuchman

Genetic Disease Foundation – Francis Crick Professor

Vice Chair for Research Department of Genetics & Genomic Sciences Mount Sinai School of Medicine

NNPDF Scientific Advisory Board

Dr. Schuchman is The Genetic Disease Foundation – Francis Crick Professor & Vice Chairman for Research in the Department of Genetics & Genomic Sciences of the Icahn School of Medicine at Mount Sinai in New York. He received his Ph.D. in Human Genetics from Mount Sinai in 1983, and after completing a postdoctoral fellowship in molecular genetics at Yale University, returned to Mount Sinai as a faculty member in 1986. His laboratory has been studying the biology of lysosomal enzymes and storage diseases for over 30 years, resulting in the first isolation of the genes encoding several lysosomal enzymes, including acid sphingomyelinase (ASM), and the first DNA-based screening for ASMD. Based on his work, clinical trials of ERT for ASMD are also underway. He also co-founded Plexcera Therapeutics, where he served as the Chief Scientific Officer and developed the first ERT for Farber disease (acid ceramidase deficiency). Together with his wife, Dr. Calogera Simonaro, Dr. Schuchman also re-purposed a drug called pentosan polysulfate (PPS) for the mucopolysaccharidoses. The National Institutes of Health and other organizations have continuously funded Dr. Schuchman’s research since 1986, and he is the recipient of an NIH MERIT award for his work on ASMD. He has published over 225 peer-reviewed basic research articles and 50 reviews in the area of lysosomal biology and disease, and frequently lectures around the world on these topics.

What inspired you to begin working in the field of Niemann-Pick disease?
I was first inspired to work on Niemann-Pick disease in 1986 as a new faculty member at Mount Sinai when I was introduced to a child with NPC. This left a profound impression on me, and shortly thereafter I began reading about the disease. From this I realized that the biology of NPD was very poorly understood, and that there were only a small handful of laboratories in the world investigating it. Even the relationship of what we now know as ASMD and NPC was not clearly understood at that time. This presented a remarkably interesting scientific challenge to me, and one where I could see that with some hard work and luck my research might make a difference.

What changes have you seen in the field of NP research throughout your career?
Having worked on NPD for over 30 years, the changes I have seen are nothing short of remarkable. As mentioned above, when I first started in this field we still did not have a clear understanding of the difference between ASMD and NPC, and there were no reliable tests to diagnose patients. Of course, the genes had not yet been isolated for either disease, there was no animal model for ASMD (only a mouse model existed for NPC), and no disease specific treatments were being developed. This has all changed, first with the isolation of the genes and identification of mutations, followed by the production of the recombinant ASM and NPC1 proteins, the construction and further development of animal models, and the use of these animal models to evaluate new treatments. Along with these developments came commercial interest and partnerships, which led to clinical trials and has transformed the field of NPD research to where it is today.

How did you come to be involved with the NNPDF?
I first became involved with the NNPDF in the late 1980s, right around the time the organization was being formed and coming into its own. By then my research had begun to focus on ASMD, and as one of the only individuals working on this disease I was in contact with many patients and families from around the world to help educate them about the disease and offer assistance. Many were frustrated because of the small number of family support groups and the lack of information that existed at that time, and in particular the ASMD families often felt alone since most of the groups were focused on NPC and it was very difficult for them to find information and support on ASMD. This led to my early involvement as one of the first scientific advisors to the NNPDF and the NPUK, and later to a large number of the other international NPD family support groups, with the goal of bringing the ASMD and NPC communities under one umbrella.

What do you enjoy the most about your professional role and your volunteer role with NNPDF?
Without a doubt it is coming to know the patients and families and developing long lasting relationships with many of them. This is something that as a laboratory scientist many of us do not have the opportunity to do. I have always found these relationships incredibly motivational to me, and something that I relate to as a father with a child with a chronic disease. I have also felt very satisfied that for the most part the NPD support groups around the world have taken our advice and included ASMD under their umbrellas. I continue to believe that this is extremely important from a support, advocacy and fund-raising perspective, especially for extremely rare diseases such as ASMD and NPC, since there is power in numbers and the NPD community can have much greater influence working together rather than apart.

What do you think the future of NPD looks like?
I strongly believe that we are entering an era where disease-modifying therapies for these diseases will become a reality. However, it is also unlikely that any one therapy will address all aspects of these highly complex diseases, so we will continue to see new research aimed at improving these therapies and examining combinations of drugs in controlled preclinical and clinical trials. This will require continued funding, and for this the NNPDF and other family organizations will continue to play an incredibly important advocacy and educational role. I also believe that newborn screening for these diseases is likely to be implemented, which is important from a treatment perspective but also presents a challenge to understand when treatments should be initiated and to justify this to the reimbursement agencies. This is likely to be an important area of clinical research in the future.

Meeting the Newborn Screening Requirements

The NPC community is engaged in a multi-stakeholder effort to add NPC to newborn screening lists across the country. Since adding any new condition to these lists would mean that any newborn would routinely be screened for a certain disease, it’s essential to demonstrate that the benefit to public health is greater than any burden to a family or to the larger public health system.

The federal government maintains a list of diseases and conditions that they have determined meet the standards for being included. That list, known as the Recommended Uniform Screening Panel or the RUSP, serves as the “Gold Standard” for states across the country that look to the federal government for advice when considering what to add to their own screening lists. In order to be included on the RUSP, a sponsoring organization must complete a nomination form that answers very specific questions regarding a condition’s “readiness” to be added. One of the questions asks for evidence that demonstrates the urgency of treatment. The application reviewers need to know how essential it is to identify a particular condition at birth so that an intervention can take place. Specifically, the RUSP nomination form asks, “How soon after birth must treatment be initiated to be effective?”

For NPC, this is an important and challenging question to answer. While there are several clinical trials ongoing to investigate the efficacy and safety of possible medications to treat NPC, we are still awaiting a first approval in the United States. Related to the gap that exists in an FDA-approved therapy, is the answer to the question of “when to treat.” To help gather the necessary evidence and expert opinion on this matter, the Firefly Newborn Screening Working Group has initiated the help of a Clinical Roundtable. This Roundtable is comprised of experts who are working to gain consensus regarding the timing for initiating treatment for patients positively identified with NPC following newborn screening. It’s important work that the Working Group not only believes will be essential for the quest for newborn screening, but also in the quest to improve clinical care for patients.

NNPDF in Action

2020 WORLDSymposium: Justin Hopkin, Board Chair and Joslyn Crowe, Executive Director recently attended the WORLDSymposium, designed for those around the world interested in learning more about the latest discoveries related to lysosomal diseases. Leading scientists from were selected to present their research findings including NNPDF Scientific Advisory Board members Dr. Melissa Wasserstein, Dr. Marc Patterson, and Dr. Ed Schuchman. Also in attendance were representatives from the INPDA and the INPDR.

2020 StrideBio NPC Awareness Event:
Thank you to StrideBio for hosting NNPDF at their NPC Awareness event. Niemann-Pick families shared stories of their NPC journey with the StrideBio team, and were updated on StrideBio’s work in gene therapy. NNPDF community member presentations were given by the Ferguson, Kingsberry and Marsh families.

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 Cyclo Therapeutics:
Cyclo Therapeutics, Inc. announced that it has completed patient enrollment in its Phase I/II trial to evaluate the safety, tolerability, and efficacy of Trappsol® Cyclo™ administered intravenously to NPC1 patients. Click here for complete announcement.

Cyclo Therapeutics, Inc. announced that the last patient has undergone the final assessment in its Phase I trial to evaluate the safety and tolerability of Trappsol® Cyclo™ administered intravenously to NPC patients. Click here for complete announcement.

Cyclo Therapeutics, Inc. poster presentation of clinical trial data on Niemann-Pick Type C disease at the 16th Annual WORLDSymposium now available. Click here for complete announcement.

Update from Sanofi Genzyme:
Sanofi announces positive topline results demonstrated by olipudase alfa, the first and only investigational therapy in late-stage development for ASMD. Click here for complete announcement.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.


Jamberry Niemann-Pick disease Nail Wraps

Show your support in the fight against Niemann-Pick disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick disease Foundation for family support services. Click here for ordering details. Available year round.

Have you hosted a fundraiser for NNPDF recently?

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

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

January 2020

mborst

Message from the Executive Director

Dear Friends and Families,

As the new year begins, we at NNPDF are working on your behalf to continue the positive community spirit and momentum that with which we ended the year. 

We are excited to announce the NNPDF Advocacy Stipend for Rare Disease Week on Capitol Hill, which will assist Niemann-Pick individuals or caregivers to attend the Rare Disease Week events taking place in Washington DC this February. Details can be found on our website and in this newsletter.

The second issue of the INPDA global newsletter will be published around Rare Disease Day, and we will of course take part, as a national organization, in the rare disease awareness activities throughout the coming weeks.

This February through April we are holding our NNPDF Community Update Webinar Series providing hour-long updates on issues impacting U.S. Niemann-Pick disease families, including clinical updates and educational updates on issues relevant to our community. Join us LIVE when possible to see the full webinar—the Question & Answer discussion can only be seen at the live presentation. All webinars in this series will be posted online following the event for viewing at any time throughout the year. Registration is required in advance for each webinar

Please remember that our Family Services are available to all of our community members, whether you’d like to have a one-on-one discussion with our Family Services Manager, join one of our group activities, or need assistance through our Emergency Hardship Program, we are only a click or phone call away.

With best wishes,

 

 

Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Advocacy Stipend for Rare Disease Week on Capitol Hill

NNPDF Advocacy Stipend
NNPDF is offering a limited number of stipends for Niemann-Pick individuals or caregivers to attend Rare Disease Week on Capitol Hill in Washington, DC from February 24 – 29, 2020.

What is Rare Disease Week on Capitol Hill?
Rare Disease Legislative Advocates (RDLA), a program of the EveryLife Foundation for Rare Diseases, will bring together over 800 patients, caregivers, and others in Washington, DC for a week of events dedicated to empowering patients, families, friends, and healthcare professionals to become legislative advocates. During the week of February 24 – 29, 2020, rare disease advocates will have an opportunity to meet with Members of Congress and to learn about policy updates and best practices for successful advocacy. Click here for complete information.

Why is Rare Disease Week important to the Niemann-Pick disease community?
As part of the Niemann-Pick community, we are all advocates and our voices matter. Building awareness about rare diseases like Niemann-Pick disease is so important, and Capitol Hill week is a great opportunity for our voices to be heard.

Rare Disease Week is an opportunity for our community to increase awareness, learn about policy updates, and educate our policy makers about the challenges we face, and needs that we share, in living with Niemann-Pick disease.

What is the NNPDF Advocacy Stipend?
The NNPDF Advocacy Stipend for Rare Disease Week on Capitol Hill is intended to help patients and families take part in the events planned by RDLA. A limited number of $500 stipends are available to assist with hotel and travel to the event. Attendees are required to make their own travel arrangements including hotel reservations. Deadline for application is January 30th. For detailed stipend application information click the link below.

NNPDF Rare Disease Day Participation

To raise awareness for Niemann-Pick disease and Rare Disease Day the NNPDF has created a custom frame for your Facebook profile pictures. Also, please feel free to display and share the NNPDF Rare Disease Day Facebook banner to promote awareness.

To add the NNPDF Rare Disease Day frame to your Facebook profile picture:

  1. Go to facebook.com/profilepicframes and log in to your page.
  2. Search for “NNPDF Rare Disease Day 2020” frame and click selection.
  3. Click “change picture” in the upper right of the frame window to change your photo if desired.
  4. Adjust to fit by using slider at bottom of frame, set duration preferences if desired and click “use as profile picture” button.
  5. You may also do this by selecting “update” on your profile photo from your profile page, select add frame, and search for the “NNPDF Rare Disease Day 2020” frame.

NNPDF Family Support & Medical Conference

Mark your calendars for the 2020 Family Support and Medical Conference! Conference program dates are July 9 – 11, 2020 in San Antonio, Texas, with a SPECIAL EVENT you don’t want to miss on Sunday, July 12th.

Sunday, July 12th, the NNPDF is planning a Family Fun Day at Morgan’s Wonderland, Ultra-Accessible Theme Park. This is a time for families and friends to gather and HAVE FUN in a worry free environment. Morgan’s Wonderland was designed with special-needs individuals in mind and built for everyone’s enjoyment. Morgan’s Wonderland offers 25 ultra-accessible™ attractions, sprawled across a 25-acre oasis of inclusion. From a wheelchair-accessible Ferris wheel to catch-and-release fishing, there is truly something for everyone to enjoy!

The NNPDF has posted an Agenda at a Glance for our conference programming overview. More details will be provided in upcoming days. In the meantime, please include Sunday, July 12th in your family conference travel plans! Click here to learn more about Morgan’s Wonderland and all is has to offer.

Firefly’s Newborn Screening Working Group Excited about Seeing 2020

The calendar has turned to 2020 and Firefly’s NPC Newborn Screening Working Group is full of anticipation and excitement about the year ahead.

As we begin the year, Firefly notes the Working Group is set for a full year of activities designed to advance the research supporting adding NPC to newborn screening lists. This includes the launch of the first-ever newborn screening pilot study that will include NPC. This will be the first time anywhere newborns will be screened for NPC. Additionally, the group is poised to raise awareness among even more stakeholders about the importance of including NPC on newborn screening lists. This includes our first presentation at the World Orphan Drug Congress taking place in April. Of course none of this would be possible without the incredible and growing support from our partners in industry, academia, and the nonprofit world. Three years ago it was hard to imagine where our nascent efforts would be today. But, with continued commitments from all, we look forward to making even more progress on our common vision where all newborns are screened for NPC, enabling a diagnosis at birth.

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 IntraBio:
IntraBio completes NPC clinical trial enrollment. Click here for complete announcement.

Updates from Orphazyme:
Orphazyme announces early access program availability in the U.S. for those living with NPC. A communication from Orphazyme to the U.S. NPC patient/parent community has also been shared which provides some direction for how interested families can obtain information about the program. Click here for complete announcement.

Orphazyme reports positive arimoclomol data from open-label phase 2/3 extension in Niemann-Pick disease Type C. Click here for complete announcement.

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.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.

Jamberry Niemann-Pick disease Nail Wraps

Show your support in the fight against Niemann-Pick disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick disease Foundation for family support services. Click here for ordering details. Available year round.

Have you hosted a fundraiser for NNPDF recently?

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

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.