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February 2024 Newsletter

Message from our Executive Director

Dear Friends,
I recently learned that a group of zebras is called a dazzle. This really stood out to me. First, because the zebra is the symbol of rare disease. The origin of this came from medical students being told “When you hear hoofbeats behind you, don’t expect to see a zebra.” Essentially, they were told that doctors should consider common and usual diagnoses rather than rare or surprising ones. But as we know, sometimes when you hear hoofbeats, there really is a zebra behind you. And while we have work to continue to reduce the time it takes to receive a diagnosis for a rare disease like Niemann-Pick disease, we take today to remember that our families are not alone, and together the rare disease community is strong and mighty. Actually, together rare disease families DAZZLE.

Three Niemann-Pick community members are currently in Washington DC advocating and educating lawmakers as part of Rare Disease Week on Capitol Hill. NNPDF is proud to have supported their efforts in part with our Rare Disease Week on Capitol Hill Advocacy Scholarship and we look forward to the summaries they will share following the week’s events.

We are fortunate to have two new drug applications recently submitted to the FDA. Zevra Therapeutics’ application for arimoclomol was submitted in late December 2023 and has been assigned a response date of June 21, 2024. IntraBio’s application for N-acetyl-L-leucine (IB1001) was submitted in January 2024. The FDA has a 60-day filing review period to determine whether the NDA is complete and accepted for review.

As a national patient organization, we are championing all of the experimental therapies in our pipeline for successful regulatory approval to ensure that all Niemann-Pick individuals have treatment options. On behalf of the NPC community, NNPDF, in conjunction with our partner Niemann-Pick type C organizations, submitted a community response and support statement  for the FDA’s review of arimoclomol earlier this month. Our intent was to ensure the FDA heard from families living with NPC and other care partners, clinicians, and community supporters. Thank you to all that signed this community response letter and shared your voice.

We are currently working on our letter of support for N-acetyl-L-leucine (IB1001) and will share an update with the NPC community in the coming weeks.

I’m also pleased to share that our collaborative research efforts with INPDR, INPDA, and Niemann-Pick UK have resulted in a new publication titled Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. This study was shared with the US Food & Drug Administration (FDA) and will continue to be shared with other international regulatory agencies as we look towards the approval of olipudase alfa in countries around the world to fill the unmet need for treatment of ASMD.

Registration will open shortly for our Family Support & Medical Conference, taking place July 11-13th in Salt Lake City, UT. Our annual conference is the largest gathering of patients affected by Niemann-Pick disease in the US, plus their family members, and experts in health, research, and education. It’s a critical time of year for families to connect with one another, and to have fun! I hope to see everyone there. In the meantime… keep dazzling.

Kind regards,


Joslyn Crowe
NNPDF Executive Director

Rare Disease Day is February 29th!

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

Rare Disease Day promotes raising awareness and generating change for the 300 million people worldwide living with a rare disease such as Niemann-Pick, their families and caregivers. YOU can show your support on Rare Disease Day by raising awareness of Niemann-Pick Disease and what it means to be rare. Learn more and get involved!

Community Update Series: NPC & ASMD Newborn Screening

Join us Monday, March 4th at 8:00 pm EST for a webinar on the NPC and ASMD Newborn Screening efforts. This webinar will share information on the importance of newborn screening and a brief history and update on the NPC & ASMD newborn screening programs.

Speakers include:

  • Pam Andrews, Executive Director, Firefly Fund
  • Melissa Wasserstein, MD, Professor, Department of Pediatrics Professor, Department of Genetics Chief, Division of Pediatric Genetic Medicine, Department of Pediatrics Montefiore Medical Center
  • Justin Hopkin, MD, NNPDF Scientific Advisory Board

Register in advance.

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.

To participate, provide us with your Health Care Hero’s information at t.ly/ThankYou2024 by March 15th.

Volunteer Opportunities

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

  • Board Members
  • Committees
  • Focus Groups
  • Advocacy and Outreach
  • Other specialized skills you may have!

If you are interested in becoming a NNPDF volunteer, please send letter of interest by MARCH 30th to jcrowe@nnpdf.org and we will follow up with you with the process for applying. Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.

Supporting One Another. Supporting Our Community.

July 11-13, 2024

Salt Lake City Marriott City Center  |  Salt Lake City, Utah

We look forward to seeing you at our 32nd Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Be sure to watch NNPDF communications for important updates. Registration opening soon!

Accommodations

Reserve by June 1st

NNPDF group rate will be available until June 1st, 2024. NNPDF Group Rate is $159 ($184.15 including taxes) per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship. This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.

NNPDF Cora Sterling Endurance Award

Application Deadline May 15th

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.

ADVOCACY: FDA Review of NPC New Drug Applications

We are fortunate to have two new drug applications recently submitted to the FDA. Zevra Therapeutics’ application for arimoclomol was submitted in late December 2023 and has been assigned a response date of June 21, 2024. IntraBio’s application for N-acetyl-L-leucine (IB1001) was submitted in January 2024. The FDA has a 60-day filing review period to determine whether the NDA is complete and accepted for review.

As a national patient organization, we are championing all of the experimental therapies in our pipeline for successful regulatory approval to ensure that all Niemann-Pick diagnosed individuals have treatment options best suited to their needs.

On behalf of the NPC community, NNPDF submitted the arimoclomol community response and support statement to the FDA earlier this month. Our intent was to ensure the FDA heard from families living with NPC and other care partners, clinicians, and community supporters, since any decision FDA makes regarding arimoclomol will impact you and your loved ones. Thank you to all that signed on and shared your voice in support of arimoclomol for the treatment of NPC.

We are currently working on our letter of support for N-acetyl-L-leucine (IB1001) and will share an update with the NPC community in the coming weeks.

RESEARCH: New publication on Real-life impacts of olipudase alfa

NNPDF is pleased to share the results of our collaborative research efforts with INPDR, INPDA, and Niemann-Pick UK have resulted in a new publication titled Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. This study has been shared with the US Food & Drug Administration (FDA) and with other international regulatory agencies as we look towards the approval of olipudase alfa in countries around the world to fill the unmet need for treatment of ASMD.

Read the Orphanet Journal of Rare Diseases publication.

NNPDF Store

Did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available. Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear! Allow 2 weeks for delivery. US only.

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.

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 Keith Mainhart and Kathy Swanson 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 Now Enrolling All Forms of ASMD

Comprehensive Care Centers

NNPDF recently added Phoenix Children’s Hospital to our 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.

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 IntraBio:
IntraBio is pleased to share that The New England Journal of Medicine (NEJM) has published a “Science Behind the Study” Expert Perspective Editorial on N-acetyl-L-leucine (IB1001) for the treatment of various neurodegenerative disorders, including all neurodegenerative lysosomal storage diseases. Read the complete announcement and the published article.

IntraBio is pleased to share that The New England Journal of Medicine (NEJM) has published the detailed results of the IB1001-301 Phase 3, Pivotal study with N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease Type C (NPC). Read the complete announcement and the published article.

 

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.

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

            

Supporting one another. Supporting our community.