November 2021 Newsletter

Newsletters

Message from the Executive Director

Dear NNPDF Community,

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

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

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

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

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

Warm Wishes,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

Niemann-Pick Awareness Month

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

Supporting One Another. Supporting Our Community.

Help for the Holidays

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

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

Application deadline is Sunday, November 28 at 5pm EST

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

PLEASE NOTE:

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

After you’ve created your Amazon Wish List:

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

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

Megan McCabe

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

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

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

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

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

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

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

Save the Date!

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

Giving Tuesday - 11.30.2021

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

Give at nnpdf.org.
#givingtuesday2021

Coffee & Catching Up

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

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

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

Newborn Screening Update

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

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

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

Community Update Webinar Series Recordings

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

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

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

NNPDF In Action

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

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

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

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

Shop AmazonSmile

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

Patients Waiting NPC Video

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

Fundraising

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

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

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

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

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

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

Family Journey

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

Clinical Trial Update

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

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

NNPDF Membership

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

Click here to update or enroll today!


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

Comprehensive Care Centers

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

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

Emergency Hardship Program

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

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

Patient AirLift Services

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

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

       

Supporting one another. Supporting our community.

September – October 2021 News

Newsletters

Message from the Executive Director

Dear NNPDF Community,

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

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

Warm Wishes,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

Niemann-Pick Awareness Month

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

EVENTS:

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

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

GET INVOLVED!

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

NPC Community Listening Session Summary Report

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

NPC Virtual Hill Day

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

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

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

Liz Heinze appointed as NNPDF Secretary

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

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

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

Save the Date!

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

Health Care Worker Thank You

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

Family Journey

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

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

Medicaid Waivers

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

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

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

Circle of Care Guidebook

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

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

Research Study & Survey Opportunities

AllStripes NPC Sibling Survey

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

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

View complete details for AllStripes Sibling Survey.

ASMD Accelerate Study

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

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

There are two “caregiver” scenarios for enrollment:

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

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

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

To review the recent ASMD Accelerate Study Webinar click here.

NPC Patient and Caregiver Experience Survey

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

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

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

Fundraising

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

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

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

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

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

Supporting One Another. Supporting Our Community.

Membership Update

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

Click here to enroll today!


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

Community News Updates

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

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

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

Comprehensive Care Centers

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

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

Emergency Hardship Program

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

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

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

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

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

Patient AirLift Services

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

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

       

Supporting one another. Supporting our community.

July-August 2021 News

Newsletters

Message from the Executive Director

Dear NNPDF Community,

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

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

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

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

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

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

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

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

Fondly,

 

Joslyn Crowe, MSW, MA
NNPDF Executive Director

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Supporting One Another. Supporting Our Community.

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NNPDF Family Support & Medical Conference Recap

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

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

View NNPDF Family Conference videos and recordings.

Supporting One Another. Supporting Our Community.

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INPDA Biennial Meeting

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

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Getting to Know Your NNPDF Board

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

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

 

 

 

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

Message from NNPDF on FDA Meeting

Originally published on 08/05/2021

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

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

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

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

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

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

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Emily McGlocklin

Sister to Marian, NPC.

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

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

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

 

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

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

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How to Communicate

Your Message to the Media

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

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

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

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Justin Hopkin Receives TORCH Award

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

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

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

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

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

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

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Milestones

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

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

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Community Connections and Coffee & Catching Up are back!

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

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

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NPC Patient and Caregiver Experience Survey

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

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

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

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Taking the Lead with ASMD:
Navigating the Healthcare System

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

 

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AllStripes NPC Sibling Survey

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

 

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Family Journey

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

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

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Membership Update

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

 

Click Here To Enroll Today!

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

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ASMD Accelerate Study

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

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

There are two “caregiver” scenarios for enrollment:

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

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

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

To review the recent ASMD Accelerate Study Webinar click here.

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Clinical Trial Updates

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

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

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Community News Update

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

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

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Comprehensive Care Centers

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

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

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Emergency Hardship Program

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

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

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

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

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

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Patient AirLift Services

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

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

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Fundraising & Awareness Opportunities

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

Have you recently hosted an NNPDF fundraiser?

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

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Supporting one another. Supporting our community.

June 2021 News

Newsletters

Message from the Executive Director


Dear NNPDF Community,

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

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

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

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

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

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

Warm Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Supporting One Another. Supporting Our Community.

Make a Gift

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Conference Information & Registration: nnpdfconf.org

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

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

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

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NNPDF Welcomes New Board Members

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

 

 

 

 

 

 

 

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Thank You, Missy Ward

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

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

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New Advocacy Committee

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

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Membership Update

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

Click Here to Enroll Today

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

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Joele Ruppert & Joseph Colton ASMD Scholarship

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

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

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Milestones

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

 

 

 

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

 

 

 

 

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

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INPDR Update

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

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

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

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ASMD Market Research Opportunity

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

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

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

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

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

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ASMD Accelerate Study

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

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

There are two “caregiver” scenarios for enrollment:

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

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

To review the recent ASMD Accelerate Study Webinar click here.

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Newborn Screening Research Study

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

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

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

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

Important Notes:

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

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Clinical Trial Updates

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

Updates from Orphazyme:

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

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

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Community News Update

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

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

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Comprehensive Care Centers

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

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

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Emergency Hardship Program

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

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

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

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

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

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Patient AirLift Services

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

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

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Fundraising & Awareness Opportunities

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

Have you recently hosted an NNPDF fundraiser?

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

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Supporting one another. Supporting our community.

May 2021

Newsletters

Message from the Executive Director

Dear NNPDF Community,

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

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

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

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

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

Best Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Cora Sterling Endurance Award Nominations

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

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

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

Conference Information & registration nnpdfconf.org

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

Newborn Screening Update

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

What is the significance?

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

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

In the Spotlight

Dr. Caroline Hastings, MD

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

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

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

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

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

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

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

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

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

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

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

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

Lori McKenna Gorski,
Global Head of Patient Advocacy

Membership Update

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

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

Clinical Trial Update

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

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

Community News Updates

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

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

ASMD Accelerate Study

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

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

There are two “caregiver” scenarios for enrollment:

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

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

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

To review the recent ASMD Accelerate Study Webinar click here.

Comprehensive Care Centers

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

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

Emergency Hardship Program

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

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

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

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

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

Patient AirLift Services

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

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

Fundraising & Awareness Opportunities

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

Have you recently hosted an NNPDF fundraiser?

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

Supporting one another. Supporting our community.

April 2021

Newsletters

Message from the Vice Chair

Dear NNPDF Community,

On behalf of the NNPDF we would like to first and foremost thank those that participated and supported our FDA Listening Session on April 9. The impact of statements from clinicians, patients, caregivers as well as the patient advocates provided incredible insight into the complexities of this disease and its impact on clinical research and patient symptom and disease management. During this session, we were able to outline areas that we, as a community, need the help of the FDA.

If you have not already seen the FDA Listening Session Summary Report, I encourage you to visit our website and read through it. It is also available in this newsletter.

As the national patient advocacy and family support organization dedicated to supporting and empowering patients and families affected by Niemann-Pick disease, the NNPDF is continuing to strategize with community members, advocates and researchers. We are finding incredible value in hearing your voices and bringing forth the importance of a united community. It is our job and our duty to remain unbiased in our work toward educating, collaborating and supporting research, so that our community can find promise in multiple therapies.

This is a very important time for our community. Patients and caregivers have all been faced with a lot over the past few months and prior. It is in these moments that we continue to work together and forward for the better of the community. We ask that we stand together, working toward a common purpose. We will PERSEVERE and continue to drive for the positive progress we can make for the lives of those affected with Niemann-Pick disease. As our community works together we will remain transparent in our strategy and continue to convey the needs of this incredible community

Thank you,

 

 

Becky McGuire, Cousin to Kelly – NPC
NNPDF Vice-Chair

FDA Listening Session on Niemann-Pick disease Summary Report

NNPDF hosted an FDA listening session on Niemann- Pick Disease on Friday, April 9th. The listening session was a platform for the NNPDF to present to the FDA/CDER and to share the concerns and priorities from the entire Niemann-Pick disease community. To review the NNPDF FDA Listening Session Summary Report, please click here.

The Listening Session Summary Report was submitted to the FDA along with several patient voice statements and the arimoclomol support letter which was signed by 500+ Niemann-Pick community members! Thank you for supporting your Niemann-Pick community!

NNPDF-INPDA Family Support & Medical Virtual Conference

We continue to prepare for the NNPDF-INPDA Family Support & Medical Virtual Conference taking place July 29 – August 1st! Watch for registration details coming soon! In the meantime, remember to download the NNPDF app for connecting, updates, info, contests, and more!

NNPDF Cora Sterling Endurance Award Nominations

Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community. Deadline for nominations is May 31, 2021.

Click here for nomination information.

Order Your NNPDF Gear TODAY!

It’s time to order some awesome NNPDF gear! For a limited time our NNPDF Pop-Up Online Store will be accepting orders for your NNPDF Tote Bags, Towels, Gaiters, T-Shirts, Jackets, Hats and more! Get some great additions for your summer outings! (US Only) Open through May 16th. 

ASMD Accelerate Study

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

The study is currently enrolling both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

There are two “caregiver” scenarios for enrollment:

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

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

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

To review the recent ASMD Accelerate Study Webinar click here.

Membership Update

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

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

Newborn Screening Update

The Newborn Screening Working Group will hold its first virtual meeting in 2021 on Friday May 14th at 4pm ET.  If you are interested in learning more about the efforts of the Newborn Screening working group and the progress that is being made towards realizing the goal of having NPC added to the RUSP (Recommended Uniform Screening Panel), or if you would like to join this important advocacy and research project, please contact Pam Andrews at Firefly Fund (pam@fireflyfund.org) to be added to the distribution list for future communications.

Comprehensive Care Centers

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

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

Coffee & Catching Up

Stay connected with your Niemann-Pick community with NNPDF virtual Coffee and Catching Up! Click here for May registration information. Questions? Please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

Extraordinary

A Book for Children With Rare Disease

NNPDF is excited to share to that Extraordinary! A Book for Children with Rare Diseases, written by Evren Ayik and his Mom, Kara, is now available for purchase online. This book, written as an expression of support for children who live with the challenge of growing up with a rare disease, captures the lessons Evren learned beginning at age three when he was diagnosed with ASMD. Click here to learn more. Congratulations to Evren and Kara! Well done!

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.

Patient AirLift Services

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

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

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 their design of pivotal Phase 3 study evaluating Trappsol® Cyclo™ in Niemann-Pick Type C1 patient enrollment is on track to commence in Q2 2021. For complete announcement click here.

Cyclo Therapeutics announces their Phase III pivotal trial using Trappsol® Cyclo™ will be enrolling soon. For complete announcement click here.

Update from Sanofi Genzyme: Sanofi Genzyme has shared an update on compassionate use program for olipudase alfa. For complete announcement click here.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

Supporting one another. Supporting our community.

March 2021

Newsletters

Message from the Board Chair

NNPDF Community,

I appreciate the opportunity to bring you the Spring edition of the NNPDF Board Chair update. As the world looks to rebound from the bitter year that was 2020, the optimism generated by the increasing availability of successful vaccines brings hope of better days ahead. While we are regularly reminded that we aren’t out of the woods yet, it’s encouraging to have hope. Thank you for doing your part in working toward a better tomorrow. 

The Niemann-Pick community has been putting in the work for a better tomorrow for over 30 years, and that work has brought us to a time when we have many potential therapies being studied. In our search for successful treatments for Niemann-Pick disease, there is a lot of news to share.

  • We are fortunate to have two industry partners that are close to submitting their completed applications to the FDA for approval. Orphazyme has announced a targeted action/PDUFA date of June 17 for the FDA to consider arimoclomol for approval. Sanofi Genzyme will submit their application for olipudase alpha with the FDA later this year. We are hoping to soon become part of the 5% of rare diseases with an FDA-approved treatment.
  • The pipeline for therapies in NPC shows great promise beyond arimoclomol. Intrabio and Cyclo Therapeutics have both announced positive results with their most recent clinical trials. Cyclo Therapeutics announced that they will begin enrolling for their pivotal trial soon while IntraBio is meeting with regulatory bodies around the globe to direct the next steps of their program in NP-C.
  • Mallinckrodt’s announcement of the suspension of their clinical program has upended the lives of many in our community. The stories of clinical stability or improvement on this therapy that many of you have shared have reinforced our efforts to find a path forward for this therapy. We are partnering with leaders in our community in our ongoing efforts to advocate for patient access to this compound while exploring options for a path forward.

In our role as the national patient advocacy organization, the NNPDF is uniquely positioned to impact drug development through amplifying your voice in discussions with regulators, industry partners and payors. Joslyn’s background in market access is particularly important as we prepare for the approval of therapies and look to provide access to approved therapies for all Niemann-Pick patients. The health insurance literacy and access survey that our community completed has already proven to be an important tool for us in preparing our community for FDA-approved therapies.

Reflecting back on our community’s experience with clinical trials, we have come to know the difficulties of conducting traditional randomized clinical trials in an ultra-rare disease. Wide spectrums of disease with variable progression, limited numbers of patients, and extended use of placebo all hinder our ability to conduct successful traditional placebo-controlled trials with Niemann-Pick patients.    

Right now, it is critical that regulators understand the needs of our community. As such, NNPDF has scheduled a Listening Session with the Center for Drug Evaluation and Research (CDER), a branch of the FDA. During this session, we will call attention to the unmet need in both the ASMD and NPC spaces. Even with the hopeful approval of olipudase, there will be unmet need for the neurologic sequala of ASMD. We will also highlight the ongoing difficulties with designing and conducting traditional clinical trials in our patient community and urge the FDA to allow for unique clinical trial designs that assess endpoints that matter to Niemann-Pick patients and families. We will advocate for a collaborative approach to these issues because we need the patient voice to not only be heard, but to be part of the regulatory process. We will provide follow up to that meeting in the next newsletter.

In our last board meeting, we discussed the importance of remaining connected as a community. For thirty years, the NNPDF has been the vehicle that allowed families to connect with one another and support each other. While last year’s virtual conference allowed a record number of attendees to connect with each other, the void of in-person connections has left many of us feeling less connected with our Niemann-Pick community. We are so fortunate to have Laurie Turner leading our Family Services and hosting the many virtual connection opportunities. The foundation will continue to expand our virtual reach through many different platforms including the launch of a new website this summer. We urge all of you to stay connected with each other and support each other because we need each other now more than ever. We are all looking forward to the day where we can see you all in person. Until then, be well and enjoy your Spring.

Thank you all for your efforts in supporting each other, our community and the NNPDF. Please reach out to me or any of your board members with any questions, concerns or ideas. 

Best wishes,

 


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

Supporting One Another. Supporting Our Community.

Comprehensive Care Centers

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

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

ASMD Accelerate Study

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

The study is currently enrolling both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

There are two “caregiver” scenarios for enrollment:

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

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

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

Click here for additional information and enrollment.

5th Annual Sanofi Genzyme TORCH Awards

Sanofi Genzyme US Public Affairs & Patient Advocacy is excited to announce the opening of the nomination period for the 5th Annual Sanofi Genzyme TORCH Awards! The TORCH Awards are an opportunity to recognize individuals of all ages who have made a significant contribution to the rare disease community! The nomination period will be open to April 16th, 2021.

You can find the application and guidelines on the Sanofi Genzyme webpage and attached.

The nomination process is simple. Nominees of all ages are welcome, including children. Self-nominations are encouraged! Of note, all nominators must be age 13 and over. Sanofi Genzyme employees, former employees and relatives of Sanofi Genzyme employees are ineligible to receive the award.

To nominate, you will be asked to submit your answer to the following question: “Please explain how the nominee has made a significant contribution to the rare disease community in one or more of the following ways: educating, empowering, advancing or connecting patients with information, resources or each other. What has been the impact of their contribution?”

People of all ages can be nominated! Examples include a young student teaching a class about a rare disease, a local fundraiser, or a parent working to make changes in legislation. Click here to read more about past recipients online.

Recipients for the TORCH Awards program are selected by an independent organization called Scholarship America. Sanofi Genzyme will not receive information on nominees and is not involved in the selection of winners. At the close of the application period, Scholarship America will review the nominations and award up to six nominees based on eligibility requirements. Sanofi Genzyme will contribute $5,000 to the nonprofit organization of each recipient’s choosing, subject to certain conditions.

To submit your nominations, and find out more about the program, please click here. And, we hope you’ll save the date! TORCH 2021 recipients will be recognized in an awards ceremony on August 26, 2021!

If you have any questions, please reach out to Ross Martin at Ross.Martin@Sanofi.com. For more information about the program see the attached flyer, which can be shared.

We look forward to recognizing the impact these contributions have made within the rare community and thank you for your nominations!

Thanks,
The Sanofi Genzyme TORCH Committee
MAT-US-2102094 v1.0 03/2021

Membership Update

CONGRATULATIONS to the winners of our early member registration drawing, Joe & Rachel Walts of Madison, Wisconsin! We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family. Thank you to those that have already done so!

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

NNPDF-INPDA Family Support & Medical Virtual Conference

Plans are well under way for the NNPDF-INPDA Family Support & Medical Virtual Conference taking place July 29 – August 1st! Mark your calendars and watch for registration details coming soon! In the meantime, remember to download the NNPDF app for connecting, updates, info, contests, and more!

Save the Date for 2022: We still gather in Orlando, along with our INPDA friends and families in late July 2022.

Newborn Screening Update

We are getting closer to the day when the first baby will be enrolled into the ScreenPlus newborn screening pilot program in New York. The entire Niemann-Pick disease community eagerly awaits what we will learn about the possibilities of better outcomes for NPC and ASMD when we can diagnose at birth. This novel pilot study is being led by Dr. Melissa Wasserstein of Montefiore Hospital and will begin in April, 2021.

Earlier this year, the Austin American-Statesman published a feature article about Firefly Fund’s work in newborn screening and highlighted the importance of Dr. Wasserstein’s study for our community.

Community Connections

The void of in-person connections has left many of us feeling less connected with our Niemann-Pick community. We urge you all to stay connected and support each other with NNPDF virtual connection opportunities including ASMD Community Connections, NPC Community Connections, and Coffee & Catching Up sessions. Click here for registration information.

Questions? Please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

In the Spotlight

The Moore Family

Brynne & Kendall, NPC

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
Our family lives in the mountains of Southern California, in a little town called, Wrightwood. We are blessed to have the full support of our loving community! We really enjoy camping whether it be at the river, lake, mountains, beach, dunes, etc. The kids love taking road trips, being able to play sports, but ultimately the favorite thing to do is spend time with each other. Gary and I (Julie) have four children: two sons – Devun 14 years and Wyatt 8 years, and two daughters – Brynne 12 years and Kendall 8 years.

When did you receive the girls’ diagnosis? What led to diagnosis?
Our girls were diagnosed in April 2017. Brynne had mild signs of delay in preschool and a couple months before diagnosis she was losing abilities every week. It was an extremely scary time for us. While at an appointment for Brynne, the neurologist told us he believed not only, Brynne, but also Kendall likely had NPC. Within a few weeks we were devastated to learn their diagnosis.

What were the first steps you took after diagnosis?
Through this difficult time we found hope in being put in contact with Sara McGlocklin who connected us with Dr Kravis. Off to Chicago we went to begin the treatments of VTS-270. Within a month Loma Linda University had their site up and running for us to continue treatment there.

How did you learn about NNPDF?
We found NNPDF through Facebook, but it took our family a while to process our new reality, and unfortunately, we didn’t reach out for a while. We basically just loved on our little family and tried to cherish every single moment together.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
I really appreciated all the updates from the NNPDF emails after signing up for membership. Which overtime got me a bit more involved. One of my favorite aspects of the NNPDF is that they always have extended arms for ALL. I appreciate that they let people come to them when they are ready, in their own time and are not pushy.

What Impact has Niemann-Pick had on your life?
NPC has changed our life in many ways. We do not take any precious moments for granted. We put God and our family before everything else. We have learned what an important role the medical team plays in our lives. And have found how loving and accepting the Niemann-Pick community truly is. Our journey is HARD, but it is shaping us into the humans God has created us to become.

What are your hopes for the future for yourself and for the Niemann-Pick community?
My hopes for the future are that multiple treatments will be available to the Niemann-Pick Community and that a cure will be found. That the people living with this disease will have the opportunity to have a better quality of life. That the families will be able to enjoy life more fully with their loved ones, including those affected by this rare disease.

INPDR Update

Thank you to everyone who contacted us with feedback for the INPDR patient, families and friends’ newsletter. There’s still time to share your opinions so please get in touch through email at angela.wilson@inpdr.org, visit inpdr.org/contact-us or social media channels with questions, thoughts and ideas – whichever way you feel comfortable sharing your thoughts, we’d love to hear them. You can also sign up to receive our quarterly newsletter by clicking here. The first newsletter will be sent out towards the end of the month.

The INPDR has also been making good progress working with sites in the U.S. to make sure it is possible for patient data to be shared through your physician. This means that, providing appropriate consent has been given, vital patient data can be shared with the Registry and used for research.

We have also noticed that more patients in the U.S. are signing up to the Patient Reported Database, which is a great way to share your experience of Niemann-Pick disease and directly contribute to progress.

The combination of Clinician Reported Data and Patient Reported Data means the INPDR can provide a broad picture of the patient experience, as well as quality data over time. All of which will make a difference to the Niemann-Pick community as data in the INPDR can be used to improve diagnosis, treatment and care.

Learn more about INPDR here.

Pfrieger’s Digest

Pfrieger’s Digest” is written by Frank Pfrieger of Niemann-Pick Selbsthiifegruppe (Germany) to provide an overview of the latest advances in Niemann-Pick disease based on recent scientific publications.

Welcome to the fourth issue of Pfrieger’s Digest. You will notice incremental changes in the design: a portrait of Ludwig Pick ornaments the header. However, the image of Albert Niemann is missing, I could not find any. Therefore, my call for a worldwide campaign: Maybe somebody can find a photo, or draw or paint a fantasy portrait… READ MORE

Patient AirLift Services

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

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

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.

Clinical Trial Update

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

Updates from Cyclo Therapeutics: Cyclo Therapeutics, Inc. announces intravenous Trappsol® Cyclo™ has met the primary efficacy endpoint in a Phase 1/2 trial in Niemann-Pick Type C1. For complete announcement click here.

Cyclo Therapeutics receives positive opinion from the Paediatric Committee of the European Medicines Agency on the agreement of a paediatric investigation plan for Trappsol® Cyclo™. For complete announcement click here.

Cyclo Therapeutics, Inc. announces it’s last patient last visit in their Phase 1/2 Trial Evaluating Trappsol® Cyclo™ for the treatment of Niemann-Pick disease Type C. For complete announcement click here.

Community News Update

Updates from Cyclo Therapeutics: Cyclo Therapeutics to Participate in Inaugural Emerging Growth Virtual Conference. Click here for complete announcement.

Cyclo Therapeutics Appoints Russ Belden as Acting Chief Commercial Officer. Click here for complete announcement.

Cyclo Therapeutics Appoints Gerald F. Cox, MD, PhD as Acting Chief Medical Officer. Click here for complete announcement.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

Supporting one another. Supporting our community.

February 2021

Newsletters

Message from the Executive Director

Dear NNPDF Friends and Family,

Rare Disease Day is approaching.  On February 28th, families from around the world join together as one voice. Throughout the month, Niemann-Pick families across the US sent photos in support of our “I Care About Rare” program and helped us amplify the Niemann-Pick voice.

Niemann-Pick is one of nearly 7,000 rare diseases. The path to diagnosis for a rare disease can be long, winding, and complicated with few specialists and supports. At the same time, the path to approval of new medications for rare diseases is complicated. We have less patients for clinical trials than a “typical” disease and traditional clinical trial designs may not fit the unique patient populations of rare diseases like Niemann-Pick.

NNPDF is advocating on behalf NPD families, to treat rare diseases differently from mainstream diseases with larger population. We are sharing our thoughts and concerns with the FDA in order to discuss challenges of clinical trials with small patient populations, to find solutions that may make approved treatments possible in the near future, and to increase the patient voice in decision making.    

To help support our positions, we now have a vast array of data from our “Challenges of Access” Survey conducted in 2020. Preliminary findings were presented in a poster at WORLD Symposium and will also be shared in a summary report shortly. Thank you again to all of the families who participated in this survey. Your responses are helping us to better understand the health insurance needs and challenges families face in accessing care and services. The data we gathered will provide the foundation needed to discuss these challenges with key opinion leaders, like legislators and regulatory officials, and to provide a platform for our fight to ensure coverage for treatment options.

Last summer our Family Support & Medical Conference featured a keynote address by Dr. Kathleen, Acting Director, Division of Rare Diseases and Medical Genetics (DRDMG), Office of New Drugs, US Food & Drug Administration. This summer, our 2021 Family Conference will again take place as a virtual event. Our Scientific Advisory Board recommend a best way to safely gather our Niemann-Pick families for our annual conference is to hold a virtual conference this year. Our Board of Directors and staff take this recommendation, and the health of the Niemann-Pick community, seriously and support this guidance.

Our program will still be held July 29th – August 1st – starting with Family Advisory Working Groups on the morning of July 29th, and our conference beginning on the evening of July 29th. We are fortunate to host the INPDA Global conference in conjunction with ours and are excited to be joined by our international friends and families. Given the success of last year’s virtual conference, we know this year will be another interactive and engaging weekend filled with clinical & research updates and discussions, our unique family break-out sessions, and plenty of time to connect on our virtual conference platform throughout the weekend.

Registration will be available shortly. Watch for the announcement and link soon! In the meantime, don’t forget to download the NNPDF app for connecting, updates, info, contests, and more!

Warm Wishes,

 

 

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Rare Disease Day

Rare Disease Day is February 28th! Show your support on Rare Disease Day by raising awareness of what it means to be rare. Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

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

NNPDF Rare Disease Day Participation

Rare Disease Day Facebook Profile

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 your Facebook page and click on your profile picture.
  2. Click on “Add Frame”.
  3. Search for “NNPDF Rare Disease Day 2021” frame and click your selection.

I Care About Rare

Show us why YOU Care about Rare! During the month of February, join us in promoting awareness of Rare Disease and Niemann-Pick disease.

  1. Click here to print out the I Care about Rare sheet. Add WHY you Care About Rare, snap a photo, and share your on your social networks with the hashtag #NiemannPickRare – let’s flood our social pages with photos of why you Care about Rare and Niemann-Pick disease!
  2. Send your photos to nnpdf@nnpdf.org with RDD in the subject line to be included in our Rare Disease Day slideshow with your I Care About Rare photos!
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Membership Update

Dear Friends,

As NNPDF Board Chair, I am honored to write you on behalf of the National Niemann-Pick disease Foundation. I hope this finds you well during these most unusual times.

We are on the cusp of a tremendously exciting period and hope to see the first approved therapies to treat Niemann-Pick disease. In an effort to best serve you and keep you updated, NNPDF has recently upgraded our data management system to meet the growing needs of our organization. We ask ALL current and interested community members to confirm or update your membership information in this new system by March 15, 2021 to ensure we have accurate contact information for you and your family.

Membership is complimentary for Niemann-Pick families, friends, and community supporters. Your NNPDF membership enrollment will ensure continued notifications of upcoming opportunities to connect with families, participate in advocacy efforts, learn about research breakthroughs and fellowship funding, participate in a clinical trial, and honor a loved one.

Enrollment also includes NNPDF member-only benefits such as:

  • Emergency Hardship Program
  • Holiday Gift-Giving
  • Family Conference Scholarships
  • Navigating Together family support sessions

Confirm or update your membership information by March 15, 2021
for your chance to win $50 towards NNPDF Gear!

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

As a member, we’ll keep you updated along the way as information becomes available for clinical trials, treatments, and advocacy efforts by way of email and our enhanced social media presence.

NNPDF Staff and Board of Directors are available and eager to talk with you and help you in any way we can. We are here for you and want to hear what is important to you! Please reach out to Laurie Turner, Family Services Manager at lturner@nnpdf.org or 877-287-3672 for any questions or for assistance in updating your information.

Thank you for your support and I look forward to our continued journey together.

 

 

Justin Hopkin, MD
NNPF Board Chair

NNPDF Family Support Medical Conference Update

Dear Friends and Families,

NNPDF’s Scientific Advisory Board recommend a best way to safely gather our Niemann-Pick families for our annual conference is to hold a virtual conference this year. Our Board of Directors and staff take this recommendation, and the health of the Niemann-Pick community, seriously. We have decided that our Family Support and Medical Conference taking place this summer will be a virtual event.

Our program will still be held July 29th – August 1st – starting with Family Advisory Working Groups on the morning of July 29th, and our conference beginning on the evening of July 29th. We are fortunate to host the INPDA Global conference in conjunction with ours and are excited to be joined by our international friends and families. Given the success of last year’s virtual conference, we know this year will be another interactive and engaging weekend filled with clinical & research updates and discussions, our unique family break-out sessions, and plenty of time to connect on our virtual conference platform throughout the weekend.
 
Registration will be available shortly. Watch for the announcement and link soon! In the meantime, don’t forget to download the NNPDF app for connecting, updates, info, contests, and more! 
 
Save the Date for 2022: We still gather in Orlando, along with our INPDA friends and families in late July 2022.

NNPDF In Action

WORLDSymposium 2021

Data from NNPDF’s Challenges of Access survey was presented at this month’s WORLD Symposium as a poster (pictured below). The survey aimed to understand health insurance literacy and challenges accessing health services in Niemann-Pick disease through the eyes of patients and families and was the most comprehensive survey conducted of the Niemann-Pick community to date. Significant findings showed that Niemann-Pick disease families had a higher level of heath literacy than the general population however insurance literacy gaps included insufficient knowledge of health insurance terminology and difficulty calculating expenses based on insurance coverage. The results showed that NNPDF has a role to play in better helping families understand Medicaid waivers, plan deductibles and out-of-pocket maximums.

The survey also showed the most common life impacts from access challenges in the Niemann-Pick community were mental health and physical symptoms. Caregiver’s most frequent burden were caregiver burnout and concerns about advocating in the right way. Results shows that Niemann-Pick community members most feared delays in access or being unable to access medications, services, and providers.

The full results of the survey will be published in a final report which will be shared publicly. The results of this research will be used to shape NNPDF’s advocacy efforts to improve patient outcomes.

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

NNPDF Family Services is pleased to share that the first Navigating Together small group session has begun. Navigating Together: Legacy Families started this week to offer support to our members that have lost a loved one. NNPDF recognizes our bereaved families are an integral part of our community and we hope to offer support with our Navigating Together sessions. 

Navigating Together series is 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 and is led by a licensed professional trained in grief counseling.

Additional Navigating Together sessions will be held for ASMD and NPC Families and may include specific sessions for families during all phases of the NP journey such as – late Onset NPC, Legacy Families, Newly Diagnosed Families.

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

Thank You to all that generously supported the NNPDF with your financial gifts in 2020 through your donations, family fundraisers, and social media fundraisers. It is through the generosity of donors like you that we are able to provide vital unmet services to patients and families along their Niemann-Pick journey. Your support matters. We can’t do it without you! Your ongoing commitment to our organization is greatly appreciated.

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 March 15th.

Coffee & Catching Up

JOIN US for Community Connections Coffee & Catching Up on Monday mornings at 11am EST! Connect with other Niemann-Pick community members who share your journey. Click here to register.

If you have any questions please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

ASMD Update

Sanofi Genzyme is excited to announce the launch of a new educational phone line for the Acid Sphingomyelinase Deficiency (ASMD) community. ASMD is historically known as Niemann-Pick disease type A, A/B, and B. This phone line is staffed by patient education liaisons (PEL) who are available to speak with callers about ASMD symptoms, diagnosis, and other disease-related topics.

You can speak with an ASMD PEL Monday – Friday, 8 am – 8 pm ET by calling 1-800-745-4447, Option 3 for Patient Services, then press 1 “for more information on ASMD.”

This number and more ASMD-related information can also be found at www.ASMDFacts.com

MAT-US-2100595

INPDR Update

This month, the INPDR launched the first of a quarterly newsletter for professionals working with the Niemann-Pick disease community. The newsletter is an opportunity to keep readers informed of our operational progress, as well as recruitment updates. We will also be covering events and projects in the pipeline. A separate newsletter especially for patients, their families, friends and carers will be launched early in the Spring.

We need your help to make sure the newsletter is what you want it to be and tells you what you want to know. The team behind the INPDR are so excited about the difference our work can make to progress and the future for the Niemann-Pick community across the world but what really matters is what patients and their families think. Patients are at the heart of everything we do so it is our hope the newsletter will inform and inspire. What would you like to know?

There are no silly questions and over the coming months we will try to cover everything you want to know: How easy is it to sign up? Maybe you don’t understand what a patient registry like us is for? Perhaps it’s hard to see what difference our work will make? When your To-Do list is as long as your arm, why should you care about the INPDR?

Please feel free to get in touch through email (angela.wilson@inpdr.org), visit inpdr.org/contact-us/ or social media channels with questions, thoughts and ideas – whichever way you feel comfortable sharing your thoughts, we’d love to hear them.

You can also sign up to receive our quarterly newsletter by clicking here.

Learn more about INPDR here.

Emergency Hardship Program

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

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

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

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

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

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 Presents Positive Data from Clinical Development Program for Lead Candidate, Trappsol® Cyclo™, at WORLDSymposium 2021. Click here for complete announcement.

Update from Orphazyme: Orphazyme to showcase data on arimoclomol in Niemann-Pick disease Type C during the 2021 Annual WORLDSymposium. Click here for complete announcement.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

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 2021

Newsletters

Message from the Executive Director

Dear NNPDF Friends and Family,

The first month of 2021 brought hope to some of our families yet fear and uncertainty to others in the Niemann-Pick community, highlighting the urgency our Niemann-Pick community faces for access to therapies. Now more than ever we need an FDA pathway that takes the unique realties of rare disease populations into account for regulatory approval and we need to ensure access to and affordability of off-label and supportive therapies benefitting our Niemann-Pick patients. NNPDF is here for all families and you are never alone on your journey. As your national patient organization, we are working tirelessly to represent the patient voice in the regulatory process and will continue to fight to bring treatments for ASMD and NPC. Remember together our voice is stronger!

If you have not had the chance to do so yet please join us for Coffee and Catching Up (informal drop-in support sessions). Weekly Coffee and Catching Up chats are held Mondays at 11:00am EST, and please watch for special Community Connections chats that are scheduled as needed.

Family Services continues to grow and we are pleased to launch the first Navigating Together small group support sessions for bereaved families. Contact Laurie Turner, Family Services Manager for more details at familyservices@nnpdf.org.

Thanks to all that participated in our NNPDF Challenges of Access & Insurance Survey. Over 79 families helped by sharing information about their burdens of insurance. This information is valuable to our community in many ways and also helps our industry partners as they move towards treatment approvals. NNPDF will be presenting a poster at the WORLDSymposium conference, held virtually in February (visit worldsymposia.org for details) and we will share the results publicly with a Community Update Webinar and publications.

In early February, you will be asked to update your membership enrollment information with NNPDF. This helps ensure you will receive our up-to-date news and information. Don’t miss out!

Rare Disease Day is February 28th! This day promotes raising awareness of rare diseases worldwide and their impact on patients’ lives. Watch for upcoming details on how you can participate in raising awareness of Niemann-Pick disease!

Warm Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

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

NNPDF Family Services is launching the new Navigating Together: Legacy Families program for our bereaved families beginning February 16th. Our program will include small group sessions for bereavement, grief, and loss (via Zoom online platform) led by Shoshanna Hecht, Licensed Clinical Social Worker, Executive + Personal Coach.

Sessions are at no cost to NNPDF community members and will require an 8-session commitment. Sessions will be held on Tuesdays at 8:00pm EST, from February 16 through April 6, 2021. Navigating Together: Legacy Families is for ASMD and NPC families that have lost a loved one.

If you would like to apply to participate in Navigating Together: Legacy Families sessions, please complete the application here. Space is limited so register early.

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

Coffee & Catching Up

JOIN US for Community Connections Coffee & Catching Up on Monday mornings at 11am EST! Connect with other Niemann-Pick community members who share your journey. Click here to register.

If you have any questions please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

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.

NORD Addresses Rare Disease Community on COVID-19 Vaccines

NORD and partners recently hosted a COVID-19 Vaccines Update webinar for the rare disease community in an effort to provide information to rare disease patients and caregivers on the COVID-19 vaccines. The webinar discussed the expedited clinical trials that resulted in FDA’s issuing EUAs for the Pfizer-BioNTech and Moderna vaccines, the vaccines’ high rates of effectiveness, as well as the imminent arrival of more vaccines. The webinar is now available for on-demand video access, click here.

Newborn Screening

By Pam Crowley Andrews, Executive Director, Firefly Fund and Allison Rosen, 3D Communications for Firefly Fund

We are getting closer to the day when the first baby will be enrolled into the ScreenPlus newborn screening pilot program in New York state. The entire Niemann-Pick disease community eagerly awaits what we will learn about the possibilities of better outcomes for NPC and ASMD when we can diagnose and intervene earlier – possibly even from birth. This novel pilot study is being led by Melissa Wasserstein, MD, of Montefiore Hospital. On December 31st, the Austin American-Statesman published a feature article about Firefly Fund’s work in newborn screening and highlighted the importance of Dr. Wasserstein’s study for our community. Please read and share! Austin family helping to get NPC1 disorder onto newborn screening test.

Help for the Holidays 2020

Several NNPDF Community members had help in making their holidays a little brighter thanks to an anonymous special donor. Our donor family wished to help ease the burden of Holiday stress, knowing that living with NPD can be difficult and 2020 came with its own set of difficulties. THANK YOU to our donor family – “…you all made us very happy with your act of love.”

INPDR Update

Firstly, the INPDR would like to wish all our friends and families in the NNPDF community a happy New Year. We hope 2021 brings an upturn in the global response to the COVID pandemic and as such, some let up for the Niemann-Pick community. We also look forward to your renewed support as we continue to grow and implement many of the changes that we outlined in our Strategic Development Plan, released at the end of last year.

What this means for Niemann-Pick patients and families is that 2021 will ensure the INPDR is a robust and quality source for vital research. Of course, so much of the progress we can make for the Niemann-Pick community depends on recruiting patients and clinical sites to share their data with the Registry. The INPDR model of disease-specific global registry offers benefits for now and future generations within the Niemann-Pick community. Therefore, while we are doing all we can to make sure your registry meets appropriate regulations and standards, we urge patients and their families to contribute to the INPDR in whatever way they can.

If you are already sharing clinician reported data, we thank you – you are helping to make progress for better diagnosis, treatment and care for the Niemann-Pick community. Did you know you can also separately self-enrol and take part in the patient reported database? This is simple to do through our website www.inpdr.org. Even if you follow, like or comment on our social media channels, it helps us to reach other members in the Niemann-Pick community.

This year, we will be launching our first newsletters; one aimed at professionals and one aimed at patients, their families and supporters. We would be really interested to hear what sort of things you would like to hear about in our patients, families and supporter’s newsletter.

Please feel free to get in touch through email, our website or social media channels with thoughts and ideas – we’d like to make sure the newsletter helps the community understand a little bit more about the power of patient data in the INPDR.

You can also sign up to receive our quarterly newsletter by clicking here.

Learn more about INPDR here.

In the Spotlight

Wendy Hopkin

Grandmother of Garrett Hopkin, ASMD
Mother of Justin Hopkin, NNPDF Board Chair

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I am the 65-year-old grandmother and #1 fan of my amazing family. I was previously a school secretary and a legal secretary but have been retired for three years. I live at the base of the Wind River Mountains in Lander, Wyoming. My husband Terry, retired teacher and coach, and I raised our sons, Justin and Lance, in Wyoming. I embrace our mountains and wide-open spaces (especially this year!) by hiking, camping, skiing, and biking. I also relish going on adventures with my kids and grandkids, and have been all over the country with them. 

When did you learn about Garrett’s diagnosis? What were your initial thoughts and concerns?
My husband and I learned of Garrett’s diagnosis in June of 2011. Garrett was a little over one year old. Justin explained the nature of the disease to us, that it was genetic, that there were different types, and the outcomes for each. We knew that Garrett was not well, but we knew nothing about Niemann-Pick. I recall my mind was in a fog, and I was certain modern medicine had a cure for whatever this disease was. We just had to find the physicians and hospital that could treat it. Following that, I was fairly certain that Justin, Courtney, Avery, Grady and Garrett would have to leave Lander to seek medical treatment for Garrett. It was a double whammy.  

What were the first steps you took after his diagnosis?
Initially, I buried my head in the sand. I hoped, prayed, wished on stars that it was a mistake or would somehow just go away. Once I did accept Garrett’s diagnosis, the most important thing I did was get tested for Niemann-Pick and encourage my family members to do the same. This data is critical. I became more knowledgeable about Niemann-Pick, I asked questions, researched, and tried to be involved and as supportive as possible for my family. 

What have you been able to do in your role as a grandparent?
Eventually, our “Hopkin 5” did move to New York for Garrett’s treatment. I was fortunate enough to be able to go to one of Garrett’s infusions at Mount Sinai and witness firsthand the entire process. For me, seeing is believing. From hotel staff to nurses, everyone there treated Garrett like a little celebrity… much as he was in Lander. That was my turning point. I knew Garrett was where he needed to be. I then joined NNPDF, attended Family Conferences and webinars, and donated to the Foundation. Now that Garrett’s family lives in New York I cannot do much for them physically, but we stay in very close contact. Let me say FaceTime is a lifesaver.

How did you learn about NNPDF?
After Garrett was diagnosed, Courtney began reaching out to other Niemann-Pick families. Ultimately, her contacts and research led her to NNPDF. Over time, we all became aware of this small organization trying to do great things for the patients and families battling this rare disease.

What caused you to get involved with NNPDF initially and how has being an NNPDF member made an impact on your family?
Once Courtney and Justin became involved with NNPDF, they told us they wanted to fundraise for the organization. Hence the birth of Golf for Garrett and my introduction to the Foundation. I soon realized how vital NNPDF is to the Niemann-Pick community. Aside from being a resource for families, the organization is in constant contact with researchers, doctors, pharmaceutical companies – anyone who can help their cause. NNPDF addresses all aspects of the disease. Being a member impacts my family because I have a grandson who benefits from it daily and a son, who in his capacity as dad and Board Chair of the National Niemann-Pick disease Foundation, is constantly advocating for all those affected by Niemann-Pick.

What advice do you have for other grandparents and extended family?
If you can, I would encourage you to attend a NNPDF Family Conference. You will meet the patients, their families, the NNPDF Staff, the volunteers and the experts. These people are our heroes and our hope. The second piece of advice is this: Even though Garrett has ASMD, he is one of the happiest, funniest, and most loving people I know. His disease does not define him. He is special – just like all of my grandchildren. Just love them, support them, and cheer them on.

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 upcoming presentations on its clinical and drug development program for lead candidate, Trappsol® Cyclo™, at WORLDSymposium 2021. Click here for complete announcement.

Cyclo Therapeutics announces positive efficacy data from Extension Protocol with Trappsol® Cyclo™ in patients with NPC. Click here for complete announcement.

Update from Mallinckrodt Pharmaceuticals: Mallinckrodt Pharmaceuticals has shared an important update regarding the adrabetadex (VTS-270) clinical development program with us for the NPC community. Click here for complete announcement.

Update from Orphazyme: Orphazyme provides regulatory update on arimoclomol for Niemann-Pick disease type C. Click here for complete announcement.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

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.

December 2020

Newsletters

Message from the Executive Director

Dear NNPDF Friends and Family,

December brings a lot of reflection. A review of the year, it’s ups and downs, and a time to pause and reflect on hopes for the new year. The holiday season can be joyous and uplifting yet it is also sad, challenging, and overshadowed by loss for many families. Complex emotions and tangled experiences are all too common for families facing rare diseases. NNPDF is here to support you, as a partner on the Niemann-Pick journey. Our resources are available to all families and no one need feel alone.

In the new year we will continue to grow our Family Services programs, including our new Navigating Together support program (*registration required), weekly informal drop-in support sessions like Coffee & Catching Up (beginning again Monday, January 11th at 11am EST), programs for siblings, and our Emergency Hardship Program. We will continue to represent the patient voice in the regulatory process, working tirelessly to bring treatments for ASMD and NPC through the FDA approvals process. We will continue to advocate for newborn screenings for ASMD and NPC Niemann-Pick families, to advocate when legislation is needed, and to help families better understand the complexities of health insurance and entitlements. We will empower community members to advocate on behalf of themselves and all Niemann-Pick families, including on Capitol Hill during Rare Disease Week. We are working towards a future with FDA approved medical treatments and a diagnosis that comes with hope not fear.

Thank you for supporting us this year so that we can best support you.

Warm Wishes,




Joslyn Crowe, MSW, MA
NNPDF Executive Director

2020 Memorials

As 2020 comes to a close, we remember not only the families of those we’ve lost, but of those that remain. Please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.

Grief Around the Holidays

by Miranda Feinberg, NNPDF Intern

Happy occasions and special events are meant to be shared with loved ones and those we hold dear. When we lose a loved one, though, such events become hard to bear. Loss makes the moments that once represented positivity and happy memories warped and ruined. It’s not only normal, but completely expected to grieve harder around special occasions. As Serina Heinze, a member of our NNPDF community, says in her blog post The Grief Who Stole Christmas, “[the holidays are] just like a magnifying glass on the reminder that someone they love is gone.”

One way that Serina focuses on the way grief affects holidays or special occasions is how yearly traditions become disrupted or hollowed. What once might have been enjoyed every year and associated with specific holidays no longer feels special. The tradition is no longer the same; something is missing, someone is gone. Traditions and routines are so ingrained in our everyday lives, so when some part of them is changed and disrupted, the tradition itself becomes troublesome and harmful to our everyday lives. Furthermore, the special-ness of holidays and the magic that is tied to them can conflate the importance of traditions in a way that makes the loss of such traditions even more distressing. Serina uses Christmas as an example of a special occasion with many long-held traditions that can be irrevocably affected by loss. She describes how, after loss, the winter snow transformed from exciting and magical to gloomy and cold, how putting up the Christmas tree became a chore, and how holiday parties became something to be avoided rather than attended.

The loss of a loved one is felt deeply at those times where there was once so much happiness. The loss of that person becomes tied to the loss of those traditions. The simultaneous feelings of grief and sadness mixed with the knowledge that everyone around you is still enjoying those once-special holidays can be very upsetting. Serina acknowledges all of these negative holiday transformations that are born of loss, but she also shares ways that she has begun to move forward. One suggestion she has is to make new traditions. Holding onto the past, resolutely unable to move forward, can immortalize the pain and prevent any healing that could happen during those holidays. Serina suggests using new traditions as a way to remember and move forward; as she says, “it won’t be the same and it never will be, but start a tradition that brings the memory of your loved one back to the holiday season.”

Moving forward is never about forgetting, but about creating something new. Serina suggests lighting a candle in honor of your loved one(s) or going around and sharing favorite memories about your lost loved one(s). Maybe you can make your loved one’s favorite meal or do something that they particularly liked. Creating some new tangible tradition is a good way to express the idea that even though your loved one is gone, the love you feel for them will always remain. It also helps to plan ahead and stay in control when you are approaching an event that you know will be painful. Remember that while it is important to allow yourself to feel and to grieve, it might be healthy to set boundaries for yourself and familiarize yourself with what is harmful and what is helpful to experience. If certain traditions are too painful to bear or certain events are too hard to attend, then don’t force yourself to experience them. Spend time with the people around you and focus on the positives wherever they are.

Coffee & Catching Up

JOIN US for Community Connections Coffee & Catching Up on Monday mornings at 11am EST! Connect with other Niemann-Pick community members who share your journey. Click here to register.

If you have any questions please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

Newborn Screening

By Pam Crowley Andrews, Executive Director, Firefly Fund and Allison Rosen, 3D Communications for Firefly Fund

What a Year: 2020 Review for NPC Newborn Screening Initiative
In some ways it’s hard to believe we’re about to turn the page to 2021. In others, it’s surprising we’re not about to enter 2022. COVID-19 has laid a heavy burden across the world. Certainly, the NPC community was not immune. Despite all of the challenges brought about by the pandemic, Firefly Fund’s Newborn Screening Initiative completed a productive year – and we are excited about what is in store for the new one.

First, with the generous support of our many sponsors and funders, we were able to commit $500,000 to support the novel ScreenPlus newborn screening pilot study that expects to screen its first neonate in early 2021. Dr. Melissa Wasserstein and her team at Montefiore have worked tirelessly – amidst the spread of the coronavirus – to finalize details for the study which includes NPC among disorders that parents will have the option to screen for at birth. Eight high birth rate hospitals in New York are initially on board and it’s expected to screen about 175,000 newborns over 5 years.

We also were able to design and launch a truly innovative study with AllStripes that will – using patient health records – research the impact of earlier intervention in NPC. The study will compare health outcomes of siblings with NPC, looking at possible differential outcomes based on timing of intervention, where one child may be diagnosed following onset of symptoms that triggers the diagnosis of another child who is diagnosed before the onset of visible symptoms. If you are a parent with multiple children affected by NPC, or know someone who is, please look into participating in this critical research by visiting allstripes.com/npc.

Finally, while we of course would have much preferred to meet face-to-face, we held our second annual Clinical Roundtable – but our first virtual one! Twenty experts (along with more than 20 community and industry supporters) convened on a Zoom meeting to review new information and discuss questions to help align expert opinion on the timing for intervention for NPC when a child is diagnosed in a newborn screening context. Co-chairs Drs. Elizabeth Berry-Kravis and Marc Patterson asked the experts a series of questions including, whether treatment modality matter to timing of intervention; should patients experience a certain change in rate of developmental decline before initiating treatment; and How do we monitor developmental change and neurological function? We are compiling comprehensive notes from the meeting and will be sharing with the full team in early 2021.

The NPC Newborn Screening Initiative is a program of the Firefly Fund. NNPDF is proud to support this initiative as an active Working Group member.

Congratulations to our NNPDF Community Game Winners!

Congratulations to Denise Sousa, Becky McGuire, and Daniel Worley, our top 3 winners! Thank you to all who participated.

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

In the Spotlight

Kaila Guy, ASMD

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
My wife, Jennifer, and I (David) both grew up in Massachusetts and up until a month ago lived in Brookline, MA (right next to Boston).  We have recently relocated to Sarasota, FL to enjoy a warm winter, while my office in Boston is closed. I’m the Chief Compliance Officer for Devonshire Investors, a private equity and venture capital firm, and Jennifer is a ballet teacher. We have two girls Kaila, 13 (with ASMD) and Collette, 7.

My wife hoped to have little ballerina’s, but my girls turned in the ballet slippers for gymnastics. Both girls compete competitively, and we spend most our week shuttling our girls back and forth to gymnastics. Seeing Kaila excel at gymnastics and her little sister try to keep up is what I enjoy most.

When did you receive your diagnosis? What led you to diagnosis?
Kaila received her diagnosis at the age of 5. Her stomach was noticeably distended starting at age two-three, but her pediatrician told us it was baby fat and she would grow out of it. At age 5, my wife brought my daughter in for a checkup for an ear infection, and the doctor on call started feeling her stomach and thought she felt Kaila’s spleen and liver.

For about 4 months doctors at Boston Children Hospital tested Kaila just about every week for everything they could imagine. They originally thought she had leukemia, then diagnosed her with children’s mono, and then thought she had leukemia again. Kaila’s spleen and liver were extremely large, and her cholesterol and triglyceride levels hovered between 400-500 mg/DL.

Researching Kaila’s symptoms on the internet, my wife and I came across Niemann-Pick disease on a website. The symptoms matched our daughter’s symptoms and we asked the doctors to test for the disease.  At the same time, we had our genetics tested. Three weeks later the doctor’s told us they thought Kaila had Niemann-Pick Type B (A was ruled out because she was alive) and she was the first case in the hospital’s history. The doctors literally handed us a piece of paper with numbers to call and stated they were not sure of the next steps. Immediately after we received the diagnosis, the genetics organization called telling my wife she carried the Niemann-Pick Type B gene and I carried the Niemann-Pick Type A gene.

What were the first steps you took after diagnosis?
We called the numbers on the piece of paper. One was a number to an individual who was affiliated with the hospital and worked at Genzyme. He had co-authored a few papers on Niemann-Pick Type B.  The other number we called was the number to the NNPDF.

Genzyme almost immediately invited us into their office, as Kaila was the first known case in Massachusetts, and we lived a few miles from the office. Genzyme provided us a background on the disease and their hope for a treatment.

How did you learn about NNPDF?
The doctors at the hospital provided us the director of the NNPDF’s phone number. We spoke with the NNPDF director for about an hour and also joined the Facebook page.                

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefitted your family?
We really wanted to push hard for a treatment and the thought the best path forward was through the foundation. Additionally, the foundation gave us an opportunity to meet other families and help other families, where possible, as much as we possibly could.

Further, the NNPDF has provided us an opportunity to speak with the FDA in-person to express the need for a treatment. I think that conversation and providing our experience with ASMD will hopefully go a long way in getting the treatment across the finish line.

What impact has ASMD had on your life?
I think it brought us closer as a family. Definitely ended up spending a lot of nights together traveling and staying in crammed New York City hotel rooms. It also expanded our family, as we adopted a cat near Mt. Sinai hospital.

Additionally, we found an incredible support group of other families, who have become like family members. It has been a wild ride, but I think there is a lot of hope for the future.

What are your hopes for the future for yourself and for the Niemann-Pick community?
Our hope is for everyone in the world to have access to the treatment. Since Kaila began the clinical trial almost 5 years ago, she has transformed into an incredible kid and gymnast. We are keeping our fingers crossed that 2021 will be an amazing year with an FDA approved treatment.

What Does NNPDF Mean to You?

We are looking for your help! Connecting with others by sharing YOUR story is how our community can support one another. Will you share your story on what NNPDF means to you? These stories will be included in our upcoming newsletters, shared on our social pages and with some of our partners. Send your stories, along with a photo to nnpdf@nnpdf.org.

Pfrieger’s Digest

“Pfrieger’s Digest” is written by Frank Pfrieger of Niemann-Pick Selbsthiifegruppe (Germany) to provide an overview of the latest advances in Niemann-Pick disease based on recent scientific publications.

Frank Pfrieger is group leader at the Institute of Cellular and Integrative Neurosciences in Strasbourg (France), which is part of the French Centre National de la Recherche Scientifique (CNRS) and affiliated with the University of Strasbourg. His research focuses on cholesterol metabolism in the brain and the mechanisms of neurodegeneration in Niemann-Pick type C disease.

Frank entered the field of Niemann-Pick type C disease 17 years ago. His previous research had raised fundamental questions about how cells in the brain meet their need for cholesterol, and defects in NPC1 appeared as a good model to test our hypotheses. Over time, he met patients, their parents and friends, and he realized the need to explain what research is all about, why it takes so long and what it takes to make progress. For several years, Frank wrote conference reports for the German NPC association. Beginning of 2020, he created “Pfrieger’s Digest”, a sort of “magazine” that informs non-specialists about the latest advances in the field based on scientific publications.

Pfrieger’s Digest – Issue 01/2020
Pfrieger’s Digest – Issue 02/2020
Pfrieger’s Digest – Issue 03/2020

Family Journeys Blog

The Family Journeys Blog posts have been updated for the month of November. Follow our 4 NNPDF families from across the country as their share monthly updates to bring 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. Check out the blog!

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient Advocacy Relations
Orphazyme

Clinical Trial Updates

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

Update from Orphazyme: Orphazyme provides regulatory update on arimoclomol for Niemann-Pick disease type C. Click here for complete announcement.

Community News Updates

Cyclo Therapeutics announces pricing of $12.5 million public offering. Click here for complete announcement.

Orphazyme has shared a statement for the NPC Community regarding the resignation of CEO Kim Stratton. Click here to read complete statement.

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.

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.