Summer 2023 Newsletter

Message from our Executive Director

Dear NNPDF Community,

As we say goodbye to the summer season and send many of our young community members off to school, we know that this time of year brings feelings of excitement and challenge for both parents and children. Our team at NNPDF is here to support you and our family services team is available to answer questions and connect you with resources that can make this transition easier. From managing your physical and emotional health to guidance on healthcare and financial issues, we are with you every step of the way.

As we reflect on the past few months, we are filled with gratitude for the participation of all our community members in so many programs and events that are helping to raise broader awareness of Niemann-Pick disease. Our 2023 NNPDF Family Support & Medical Conference showed the magic that can happen when our community comes together and highlighted the unique bonds and invaluable experiences that are possible when families unite to share their stories and experiences. We are so thankful to all who made this year’s conference a huge success and we are already looking forward to seeing you again in 2024.

Looking ahead, we have many exciting programs and initiatives planned, including support for Niemann-Pick Awareness Month in October. Be on the lookout for daily social media content that can be shared with friends and family, insightful webinars with experts in many helpful areas, and a special spotlight on our Super Siblings who all deserve to be recognized for their amazing contributions. We will stand strong in supporting family-driven fundraisers and will join with our global Niemann-Pick community to recognize Niemann-Pick Awareness Day on October 19.

The Niemann-Pick community has supported each other through the accomplishments and the challenges we have met along the path to drug approval. Today we learned that Kisbee Therapeutics will no longer continue its research program into NPC. This is certainly disappointing for our community and a bitter reminder that the path to drug discovery is complex and challenging. We are fortunate to have such an active clinical pipeline and expanded access programs in NPC, and as your patient advocacy and family support organization, NNPDF will continue to partner with the pharmaceutical companies in our space as well as with companies considering pursing Nieman-Pick disease and we will continue to ensure that the patient voice is represented in all aspects.

We will not slow down our efforts until we have FDA-approved treatments for all Niemann-Pick individuals and access to these medicines for everyone in the U.S.

As always, NNPDF is here with information and support services, and we are honored to be a part of your journey. If you need any assistance, please do not hesitate to contact us at nnpdf@nnpdf.org.

Sincerely,

Joslyn Crowe
NNPDF Executive Director

Family Support & Medical Conference Recap

The NNPDF would like to extend a sincere thank you to all of our volunteers, sponsors, and community partners for making our Family Support and Medical Conference a wonderful event for our Niemann-Pick families and community members! It was fantastic to see many of our community members in support of one another. We can’t wait to see you in Salt Lake City, Utah in 2024!

Check out the conference recordings, photos, and more!

2023 NNPDF Breakthrough Award

Congratulations to Sanofi, our 2023 NNPDF Breakthrough Award Recipient!

When thinking about this tremendous milestone – the first approved medicine for ASMD – NNPDF wanted find a meaningful way to recognize this important event. This is a first for the Niemann-Pick community in the US. An approved treatment. A moment we have dreamed about as a community for decades. A moment our families were hesitant to believe would come because the road to approvals has been complicated, and full of disappointments.

We had no roadmap for this, and we had no award or ceremony so fall back on. So we created something that we feel is as special as the moment we are commemorating. Presented for the first time, the NNPDF Breakthrough Award honors industry innovators that have reached significant milestones in developing a treatment to improve the lives of Niemann-Pick disease patients.

This year’s inaugural winner is Sanofi for the FDA-approval of Xenpozyme. The olipudase alfa product was approved in August 2022 for the treatment of non-CNS manifestations of Niemann-Pick types AB and B (acid syphingomylenase deficiency). This is the first, and only, approved treatment for this type of Niemann-Pick disease and the culmination of decades of work and partnership.

NNPDF is proud to honor and recognize Sanofi with our inaugural Breakthrough Award.

Congratulations Sanofi!

2023 NNPDF Persevere Award

Congratulations to Support of Accelerated Research (SOAR), our 2023 Persevere Award Recipient!

The NNPDF Persevere Award is presented annually at the NNPDF Family Support & Medical Conference to a person or organization that has made a significant contribution to the Niemann-Pick community. Nominees can be from the medical and scientific community as well as from the patient and family community. Nominations for this award are solicited from the NNDPF Board of Directors and determined by the NNPDF Award Committee. Past recipients of the Persevere Award include: Dr. Edward Schuchman, Missy & Jim Ward, Lisa Chavez, Dr. Melissa Wasserstein, Dr. Marc Patterson, Dr. Andrew Lieberman, Jim Green, Sandy Cowie, and Dr. Dan Ory.

This year, we are thrilled to honor an organization for the first time. Support of Accelerated Research, better known as SOAR, was created by parents and scientists as a grassroots response to the absence of treatment for Niemann-Pick type C. The primary goal of SOAR is to work as quickly as possible to find evidence-based treatments and ultimately a cure for NPC.

SOAR scientists are internationally recognized in NPC research and supported by family foundations including: Hide & Seek Foundation, Dana’s Angels Research Fund, Race for Adam, Hadley Hope Fund, Hope for Hayley, Johnathan’s Dreams, and more. SOAR also collaborates with NNPDF and APMRF. SOAR’s long-time research coordinator, Cristin Davidson, has become a well-known leader in the NPC community, bridging research and family outreach. Cristin has recently moved to NIH and her role at SOAR will now be led by Wenping Li.

SOAR is recognized for its collaborative scientific focus on research for Niemann-Pick type C, and the cooperative role it plays amongst organizations in the national Niemann-Pick community. NNPDF is proud to honor and recognize SOAR with the 2023 Persevere Award. Congratulations SOAR!

2023 NNPDF Cora Sterling Endurance Award

Congratulations to Liam Ferguson, our 2023 NNPDF Cora Sterling Endurance Award Recipient!

This Award is presented annually to a young person who shines in raising awareness of Niemann-Pick Disease. Nominees should show a special characteristic, strength, and poise that exemplifies their own endurance in the Niemann-Pick journey and raises awareness of Niemann-Pick disease in the community on a small or large level.

This year, NNPDF has the honor of presenting the award to a young man who truly exemplifies ENDURANCE. Liam Ferguson is only 8 years old, but he’s already made an unforgettable impact on so many people. He captures the attention of anyone he meets. Whether it’s by sharing his entertaining jokes, throwing the first pitch at a ball game, sharing a spotlight moment at an awareness event for a pharmaceutical company’s employees, or lending his assistance at the 2019 conference registration booth as the (un)official conference greeter, Liam makes an impact on those around him, always working the crowd to make all feel welcome.

Liam was diagnosed with Niemann-Pick type C as an infant. Now, at the age of 8 years old, Liam does not shy away from the opportunity to speak out (professionally of course) and despite his physical challenges, does not let his diagnosis stop him from trying new things. His big and bright personality, positive no fear attitude, and entertaining jokes set a great example of what ENDURANCE truly looks like to those inside and outside of the Niemann-Pick community.

NNPDF is proud to honor and recognize LIAM FERGUSON with this year’s Endurance Award. Congratulations Liam!

Lysosomal Storage Disease Advocacy Coalition

NNPDF recently was part of the formation of the Lysosomal Storage Disease Advocacy Coalition (LSDAC). Working in an LSD coalition originated from and supports our newborn screening efforts for ASMD. Our newborn screening advocacy for Niemann-Pick type C (NPC) is executed as an active member of the Firefly Fund’s NPC Newborn Screening Working Group.

The LSDAC is a new advocacy coalition of multiple patient advocacy organizations dedicated to advancing public policy priorities that benefit and improve the quality of life for patients living with lysosomal storage disorders (LSDs). Read the press release.

ASMD Represented at Sanofi Rare Disease Registries Patient Council

ASMD Represented at Registries Patient Council
National Niemann-Pick Disease Foundation (NNPDF), International Niemann-Pick Disease Alliance (INPDA), and International Niemann-Pick Disease Registry (INPDR) were represented among 9 global and local patient advocacy groups (PAGs) to participate in the 3rd Sanofi Rare Disease Registries Patient Council. The Council met in Amsterdam on 1 April 2023 to:

Engage in a discussion of follow-up from the 2nd Registry Patient Council, which was held in March 2022
Hear from the leadership of regional and international PAGs for Gaucher, Fabry, MPS I, Pompe and ASMD diseases about changes in the real-world data ecosystem and registries
Share Sanofi’s priorities, focus, and activities on Rare Disease Registries patient initiatives
Identify opportunities for future collaboration

The meeting was an exciting day of sharing perspectives of Council members on the importance of real-world data/evidence and the ongoing collaboration with the Rare Disease Registries. We are happy to share the executive summary.
In addition, we are excited to announce that an abstract co-authored by the Council was accepted for a poster presentation at the 2023 Annual Symposium of Society for the Study of Inborn Errors of Metabolism (SSIEM). “A rare partnership: community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem” will be presented on behalf of the entire Council at SSIEM on 29 August – 1 September 2023. View the summary.

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

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

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.

Zevra Therapeutics Update:
Zevra Therapeutics Participates in the 2023 NNPDF Family Support & Medical Conference. Zevra Therapeutics announced their support of the National Niemann-Pick Disease Foundation’s (NNPDF) Family Support and Medical Conference. Members of the Zevra team attended this event which was held in Orlando, Florida, in July. Read the press release.

Community News Update

The NNPDF shares important news and highlights relevant to our Niemann-Pick community as soon as it is received. Visit our Community News web page under the resources tab for up to date information.

Zevra Therapeutics Statement to the Community:
Zevra Therapeutics has shared the following statement to the community with the NNPDF announcing their intention to acquire Acer Therapeutics. Both companies are focused on the development and commercialization of therapies for rare diseases with significant unmet medical needs. Zevra remains steadfast to their key priorities to the NPC community. Read the complete statement. Additionally, the press release can be found here.

Community Statement from Kisbee Therapeutics:
Kisbee Therapeutics has shared the following community statement with the NNPDF community, announcing it will no longer continue its research program into NPC. This is certainly disappointing for our community and a bitter reminder that the path to drug discovery is complex and challenging. We are fortunate to have such an active clinical pipeline and expanded access programs in NPC, and as your patient advocacy and family support organization, NNPDF will continue to partner with the pharmaceutical companies in our space as well as with companies considering pursing Niemann-Pick disease and we will continue to ensure that the patient voice is represented in all aspects. Read the complete statement.

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. Learn more.

Comprehensive Care Centers

NNPDF provides 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.

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.

THANK YOU to Gail Schrivener, Gina Clark, Thomas Barry, and Shane Hemsley who recently held Facebook Fundraisers!

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! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

ASMD Accelerate

Wylder Nation and NNPDF continue to enroll for ASMD Accelerate. Every child’s story can make a difference for the future of ASMD care.

This study is an opportunity to contribute to ASMD research from home. Signing up with PicnicHealth takes 5 – 10 minutes – after that PicnicHealth’s team collects your child’s longitudinal medical records on your behalf, securely upload them to your PicnicHealth account, and then de-identifies these records for ASMD researchers.

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

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