February 2024 Newsletter

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