We support and empower patients and families affected by all Niemann-Pick disease types through education, community, and research.
The National Niemann-Pick Disease Foundation (NNPDF) is the largest Niemann-Pick disease family support organization in the world. We support and empower patients and families affected by all Niemann-Pick disease types through education, community, and research. We serve as the U.S. member organization of the International Niemann-Pick Disease Alliance (INPDA), connecting the U.S. Niemann-Pick community with a global network dedicated to advancing support, awareness, and research.
We were founded by parents and our Board remains predominantly family-led today. Everything we do traces back to one belief – no family should face this disease alone.
On February 10, 1992, six families with children affected by Niemann-Pick disease gathered at the National Institutes of Health in Bethesda, Maryland. Research funding was being cut, and they knew that without research, there was little hope for their children. So they did what parents do: they took matters into their own hands and founded the Niemann-Pick Type C Foundation, Inc.
Within a year, that small group of families had:
Every one of those six founding families has since lost a child to Niemann-Pick disease. All six families are still NNPDF members today.
What started as six families around a table has become a national network — but the mission hasn’t changed, only its reach.
Six families with children affected by Niemann-Pick disease met at the National Institutes of Health in Bethesda, Maryland, and founded the Niemann-Pick Type C Foundation, Inc.
The foundation launched its first newsletter, created a family directory, distributed educational materials, and began raising funds for research. A Scientific Advisory Board was established, and early advocacy efforts helped secure federal support for Niemann-Pick disease research.
The organization adopted the name National Niemann-Pick Disease Foundation, Inc., and received nonprofit recognition from the IRS. This milestone established a broader national identity and strengthened its commitment to families affected by Niemann-Pick disease.
NNPDF hosted its first family conference, bringing families, researchers, and medical professionals together to share knowledge, build relationships, and strengthen the Niemann-Pick disease community. The gathering began a tradition of family connection and education that continues today.
NNPDF awarded its first research grant to Dr. Eugene Carstea to investigate the genetic cause of Niemann-Pick disease type C.
Researchers identified the NPC1 gene, a breakthrough that transformed scientific understanding of Niemann-Pick disease type C. Research supported by NNPDF contributed to this discovery, helping lay the foundation for improved genetic testing, diagnosis, and future therapeutic development.
Miglustat received European authorization for treating progressive neurological manifestations in eligible patients with Niemann-Pick disease type C.
NNPDF helped coordinate the U.S. rollout of the International Niemann-Pick Disease Registry (INPDR), an initiative designed to improve understanding of the disease and support research through the collection of patient information.
NNPDF introduced an updated visual identity featuring a butterfly alongside the foundation’s longstanding rainbow symbolism. The refreshed identity honored the Niemann-Pick community, including the memory of loved ones lost, while looking toward the future.
A patient-focused drug development meeting brought attention to the experiences, challenges, and treatment priorities of individuals and families affected by NPC. These perspectives helped communicate the community’s needs to researchers, regulators, and therapy developers.
As the COVID-19 pandemic disrupted in-person gatherings, NNPDF transitioned its annual family conference to a virtual format. The foundation continued connecting families with researchers, healthcare professionals, and one another during a period of unprecedented uncertainty.
The U.S. Food and Drug Administration approved Xenpozyme (olipudase alfa), the first FDA-approved treatment for non-central nervous system manifestations of acid sphingomyelinase deficiency in children and adults. This landmark achievement marked a new era of treatment for the ASMD community.
Following a community needs assessment, NNPDF expanded its mission to provide more direct support to individuals and families affected by Niemann-Pick disease. The creation of a dedicated Family Services Department marked a significant new chapter in the foundation’s commitment to helping families navigate everyday challenges.
NNPDF celebrated its 30th annual Family Support and Medical Conference in Orlando, Florida. The milestone reflected three decades of bringing families, researchers, clinicians, and advocates together in pursuit of hope and progress.
NNPDF presented its first Breakthrough Award at 2024 annual conference to Sanofi in recognition of the FDA approval of Xenpozyme. The award celebrated an important therapeutic achievement and the collective efforts of the ASMD community, researchers, and industry partners.
The FDA approved MIPLYFFA (arimoclomol), used in combination with miglustat, for neurological manifestations of NPC in patients two years of age and older. It became the first FDA-approved treatment specifically indicated for Niemann-Pick disease type C.
Just four days after the approval of MIPLYFFA, the FDA approved AQNEURSA (levacetylleucine) for neurological manifestations of NPC in eligible adult and pediatric patients.
NNPDF’s 33rd Annual Family Support and Medical Conference in Concord, North Carolina, brought the community together to reflect on historic treatment approvals and continued scientific progress. NNPDF recognized IntraBio and Zevra Therapeutics with Breakthrough Awards for their contributions to NPC treatment development.
Since awarding its first research grant in 1993, NNPDF has funded more than 50 research grants and 22 fellowships, totaling over $4 million in support of Niemann-Pick disease research. Made possible by the dedication of families, donors, and community supporters, these investments have contributed to important discoveries, advanced understanding of NPC and ASMD, and supported the next generation of researchers.
Become an NNPDF member for the latest research updates, event invitations, and a direct line to the community.
