January 2023 Newsletter

January 2023

Message from the Executive Director

Dear NNPDF Community,

It is hard to believe that we are already a month into the new year. With Rare Disease Day just a few weeks away, this is a great opportunity to express our gratitude to the many members of the Niemann-Pick disease community who support our work at NNPDF. We would also like to take this opportunity to thank you for your continued support and to highlight the many ways that these efforts are making a positive difference.

On February 28th, patients, families, friends, clinicians, researchers, industry leaders and policy makers will join together to raise awareness of the issues impacting more than 300 million people around the world who are affected by rare diseases. At NNPDF, we will be launching a range of initiatives to help raise awareness of the impact of Niemann-Pick disease on social media, through blog posts and LinkedIn articles, and by continuing our efforts to highlight the critical need for research that can lead to new treatments.

This year’s Rare Disease Day theme is “Share Your Colors.” This highlights the importance of elevating all our voices to make sure our needs are being heard by people who can help make a difference. By using your voice to share your story, you can help more people learn about Niemann-Pick disease. By sharing your story, you can help more people get the screening they need for a proper diagnosis as early as possible and perhaps most importantly, your story can help more families learn that they are not alone and that there is support available for the emotional, financial, or medical issues they might be facing. Raising awareness also helps leaders in government, industry, and research to better understand our needs and develop policies or research studies that can lead to better support and more hope for patients and families in the years ahead. Your story can also help shine light on our mission at NNPDF and help more people to connect with our information and services.

As we plan make the most of Rare Disease Day, we also emphasize that NNPDF is dedicated to raising awareness every day to make sure our community has the support it needs. We continue to expand our support services to bring more resources to both patients and caregivers each year. We are in contact with regulators and industry leaders to ensure we bring them new insights on ways to support our community. We will also support new research that can highlight all of the important issues that affect patients and caregivers. And as always, we continue to fight for research that can lead to new treatments and will not stop until ALL people impacted by ALL types of Niemann-Pick disease have access to the therapies they need.

We hope you will join us in our efforts to raise awareness in 2023 and send our best wishes to you and your family at the start of this new year.

Joslyn Crowe,
NNPDF Executive Director

Rare Disease Week on Capitol Hill Advocacy Stipend

Rare Disease Week on Capitol Hill events will be taking place from February 28 – March 2, 2023 in Washington, DC. NNPDF is offering a limited number of NNPDF Advocacy Stipends for Niemann-Pick individuals, caregivers, or family members to attend! Complete details can be found here.

Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators. 

Visit everylifefoundation.org for Rare Disease Week on Capitol Hill information on:

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

Community Meeting with Azafaros

NNPDF and NTSAD invite you to join us for a Community Meeting with Azafaros to learn more about their Phase 2 multi-national trial for AZ-3102 in Niemann-Pick Disease Type C and GM2 Gangliosidosis on Wednesday, February 8th at 8:00pm ET. Speakers include Daniel Mitroi, MD, Regional Medical Director, Azafaros.

Register to attend.

AZ-3102 is a therapeutic candidate developed for people affected by Lysosomal Storage Disorders (LSDs) with neurological involvement. Azafaros B.V. recently received Investigational New Drug (IND) clearance from the United States Food and Drug Administration (FDA) earlier this month, to conduct a clinical Phase 2 trial for its lead asset, AZ-3102, which is being investigated for the treatment of neurological symptoms of Niemann-Pick disease type C (NP-C) and GM2 gangliosidosis (GM2).

Rare & Ready Advocacy Bootcamp

Please join Rare & Ready: A Genetic Condition Coalition for a 90-minute Advocacy Bootcamp on Tuesday, February 7, at 12:30 pm ET.  All diagnosed individuals and family members are invited to attend this free webinar!

Jennifer Hitchon and Ken Sprague, Government Affairs at BioMarin, will share information on state policies important to the rare disease community.

You will learn:

  • How to communicate with your state legislator
  • How to use social media effectively
  • Advocacy strategies to help you navigate policy hurdles

NNPDF is a member of the Rare & Ready Coalition.

Pre-registration is required. Learn more.

Courageous Parents Network Virtual Workshop

Courageous Parents Network invites you to join their upcoming virtual workshop: Managing Caregiving Stress as a Couple on Wednesday, February 15th at 8:00 pm ET

All relationships face stress, but partners caring for a child with a serious illness are confronted with unique challenges. Dr. Talia Zaider, a licensed psychologist and marriage and family therapist, will offer insights and considerations for coping together. Register today!

The workshop is free and we hope you will take advantage of this offering.

Thanking our Niemann-Pick Health Care Heroes

Clinical care team members play an important role in the lives of our Niemann-Pick families and are valued throughout our community. In recognition of Rare Disease Day NNPDF will mail Thank You cards to your Niemann-Pick Health Care Heroes to let them know they are very important to us. Health Care Heroes can include your primary care provider, genetic counselor, speech pathologist, physical or occupational therapist, gastroenterologist, respiratory therapist, home health care nurse, etc.

Participate by providing us your Health Care Heroes’ information by February 20th.

Coming Soon...

Acid Sphingomyelinase Deficiency (ASMD) Patient Experience with Olipudase Alfa Survey

The International Niemann-Pick Disease Registry (INPDR) is conducting this survey in collaboration with The National Niemann-Pick Disease Foundation, Inc. (NNPDF), International Niemann-Pick Disease Alliance (INPDA), and Niemann-Pick UK (NPUK). This survey forms part of a larger study that includes interviews with Niemann-Pick disease type A/B and type B (ASMD) patients, which will explore the questions in this survey in more depth.

Survey information will be released shortly by eblast and on our website or contact nnpdf@nnpdf.org to participate.


Do you have a special milestone to share? Send us a photo along with the details to nnpdf@nnpdf.org and we’ll publish in an upcoming newsletter!

Congratulations Tinley Apt who has been doing remarkable since starting enzyme replacement treatment for ASMD in August 2021. She was so excited to get to play soccer last summer and keeps busy and active with coloring, playing with friends and loves to swim in the summer.  GO TINLEY!!

Congratulations to Evren Ayik! Evren was selected by Uplifting Athletes as a Broncos Country Hero of the Game at the Sunday, January 8th game between the Denver Broncos and the Los Angeles Chargers. Evren shares “One of the best experiences of my life! Thank you to the Uplifting Athletes and Denver Broncos for this very special and memorable experience!” Way to go Evren!! You can check out the video on Facebook.

Bringing Holiday Cheer Update

Twenty-six NNPDF Community member families had help in making their holidays a little brighter. A heartfelt THANK YOU to our special anonymous donor. This special program aims to help ease the burden of holiday stress, while promoting family togetherness and enjoyment, by helping to bring some cheer to our Niemann-Pick families. NNPDF was able to assist with over 200 items for our families. Thank you again for providing much joy to our families.

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AmazonSmile Ends February 20th

AmazonSmile has made an impact in our community by donating over $6000 to NNPDF since it started thanks to those of you who signed on to their giving program. Unfortunately we’ve been informed that the AmazonSmile program will be ending February 20th. Please continue to support this program until then. We like to thank all those that contributed to NNPDF through the AmazonSmile charity program.

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD, including:

  • Prescription drugs (copays, deductibles, and coinsurance)
  • Health insurance premiums
  • Therapy administration costs
  • Disease management (such as prescribing-physician copayments), treatment-related travel costs, and genetic testing

Learn more about The Financial Assistance program.

Surveys, Studies, & Market Research

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

Clinical Trial Updates

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

Updates from Azafaros:
Azafaros receives FDA IND clearance and Fast Track Designation for its lead asset AZ-3102 for treatment of Niemann-Pick disease type C (NPC). Read complete announcement.

Azafaros announces organizational changes within the company. Read press release.

Updates from Cyclo Therapeutics:
Cyclo Therapeutics’ January 2023 newsletter is live. Scott Fine, CEO shares an update on their ongoing Phase 3 study, TransportNPC™ and a recap of key activities delivered last year. Read more.

Cyclo Therapeutics provides clinical program update and highlights recent achievements. Read complete update.

Community News Updates

Updates from KemPharm:
KemPharm demonstrates its continuing commitment to the Niemann-Pick Community with recent leadership changes. Read press release.

KemPharm announces board and leadership changes to support its transformation into a leading rare disease company. Read complete announcement.

KemPharm announces the promotions of Sven Guenther, PhD, to Chief Scientific Officer and Christal Mickle, MA, to Chief Product Development Officer. Read press release.

Update from Cyclo Therapeutics:  Cyclo Therapeutics has announced its abstract has been accepted for poster presentation at the Society for Inherited Metabolic Disorders (SIMD) 44th Annual Meeting regarding TransportNPC. Read the complete announcement.


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 Amanda Stephens, Kasey Apt, Rick Alan, Jessica Stull, Haley Coulter Wilson, Kathleen Margaret, and Kit Neal Hensler who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

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

NNPDF Membership

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

Click here to update or enroll today!

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

Emergency Hardship Program

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

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


Supporting one another. Supporting our community.

The Assistance Fund – ASMD Financial Assistance Program

January 2023

The Assistance Fund’s ASMD financial assistance program provides financial assistance for the following:

  • Prescription drug assistance (copays, deductibles, and coinsurance) on all FDA-approved treatment for ASMD
  • Health insurance premiums
  • Therapy administration costs
  • Disease management (such as prescribing-physician copayments)
  • Treatment-related travel costs
  • Genetic testing

The Assistance Fund (TAF) helps patients and families facing high medical out-of-pocket costs by providing financial assistance for co-payments, coinsurance, deductibles, and other health-related expenses. Since its founding in 2009, TAF has helped more than 160,000 children and adults in all 50 states, Washington, DC, and Puerto Rico.

Among TAF’s 80 disease programs is the Acid Sphingomyelinase Deficiency (ASMD) Financial Assistance Program. The Acid Sphingomyelinase Deficiency Financial Assistance Program provides financial assistance for out-of-pocket costs associated with all FDA-approved treatment for ASMD, including prescription drugs (copays, deductibles, and coinsurance), health insurance premiums, therapy administration costs, disease management (such as prescribing physician copayments), treatment-related travel costs, and genetic testing.

To be eligible for assistance, patients must be U.S. citizens or permanent residents, meet certain income requirements, have a diagnosis of the disease named in the disease program, have government or private health insurance, and a prescription for an FDA-approved treatment for ASMD. Once a patient is enrolled in a disease program, their coverage lasts the entire calendar year and there is no cap on the amount of assistance in that calendar year.

To learn more, or to apply today, visit enroll.tafcares.org or call (855) 233-0505.

ASMD Financial Assistance Program – One Pager
The Assistance Fund Press Release 01/16/2023

Supporting one another. Supporting our community.