Life 4 Liam
National Niemann-Pick Disease Foundation
The primary U.S. family-support and advocacy organization for Niemann-Pick types A, B/ASMD, and C. Education, conferences, and a community that has walked this road for decades.
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We are not the only ones in this fight.
Life 4 Liam funds Iowa gene-therapy work and holds NPC families. Other organizations, labs, and companies have been in this fight longer, in more places, with more tools. The medicines on Treatments come from the companies below — or are still in a lab.
Family organizations U.S. family support Patient registry Research consortium Research fund Research fund · Notre Dame Family fund · Austin Advocacy and access Family fund · Virginia Lysosomal research fund Canada Australia Global alliance UK charity UK research Italy Spain Spain · Madrid Switzerland Brazil
Who walks with NPC families.
International Niemann-Pick Disease Registry
The international patient-owned registry. Natural-history and clinical data that researchers, clinicians, and regulators use to understand NPC.
Visit siteSOAR-NPC
Support Of Accelerated Research for NPC — families and scientists (including Schultz and Cologna labs) sharing a strategy to move treatments faster. Founding family funds include DART and Hide & Seek.
Visit siteDana’s Angels Research Trust
Founded by Philip and Andrea Marella. Funds NPC research, helped launch SOAR-NPC, and has supported newborn-screening work.
Visit siteAra Parseghian Medical Research Fund
One of the longest-running NPC research funds, at the University of Notre Dame. Grants to academic labs working toward treatments and a cure.
Visit siteFirefly Fund
Founded by Chris and Pam Andrews after daughters Belle and Abby were diagnosed. Cure work, newborn screening, and family support.
Visit siteHope for Marian Foundation
Founded by Sara and Paul McGlocklin. Patient advocacy, access to experimental medicines, and published family stories including Reagan, Woodrow, and Belle and Abby.
Visit siteAbbyStrong Fights NPC
Awareness and research for NPC and other childhood dementias. Education, newborn screening, access, and community events.
Visit siteHide & Seek Foundation
Family-founded fund supporting lysosomal storage disease research, including NPC. A SOAR-NPC partner.
Visit siteNiemann-Pick Canada
Canadian family support, research funding, and advocacy for access to NPC and ASMD therapies.
Visit siteAustralian NPC Disease Foundation
National NPC family support in Australia. Conferences, research spotlights (including Florey mRNA work), and INPDA membership.
Visit siteInternational Niemann-Pick Disease Alliance
Umbrella group linking Niemann-Pick patient organizations worldwide. Trial news, family videos, and the live roster of national groups.
Visit siteNiemann-Pick UK
UK family support, information, and advocacy for Niemann-Pick diseases. Conferences, helpline, and policy work.
Visit siteNiemann-Pick Research Foundation
UK research charity focused on Niemann-Pick disease science, listed by INPDA alongside NPUK.
Visit siteAssociazione Italiana Niemann Pick
Italian family association for NPC, ASMD, and related lysosomal diseases. Support, meetings, and research advocacy since 2005.
Visit siteFundación Niemann-Pick de España
Spanish NPC foundation. Family support and research collaboration. INPDA member.
Visit siteAsociación Niemann-Pick Fuenlabrada
Madrid-area family association. Support, awareness, and research fundraising for NPC.
Visit siteNiemann Pick Suisse
Swiss family association for Niemann-Pick. Advice, accompaniment, and awareness.
Visit siteAssociação Niemann-Pick Brasil
Brazilian association for Niemann-Pick and related diseases. Family support and rare-disease policy work.
Visit site Labs mRNA and prime editing · our partner Mass spectrometry · Chicago Natural history and trials · Bethesda Clinical research · Chicago Clinical trials · Oakland / UCSF NPC1 cat model · gene therapy NPC1 mouse models · SOAR-NPC mRNA gene therapy · Australia
Where the science actually happens.
Academic groups, not companies. Schultz is the lab Life 4 Liam funds. Cologna in Chicago works closely with that group on how NPC1 protein behaves and how to measure whether a treatment is working.
Schultz Laboratory, University of Iowa
Dr. Mark Schultz at Stead Family Children’s Hospital. Lipid-nanoparticle mRNA to restore NPC1, then prime editing to rewrite the gene. This is the program Life 4 Liam funds.
Visit siteCologna Laboratory, University of Illinois Chicago
Dr. Stephanie Cologna. Mass-spectrometry proteomics and lipidomics for NPC biomarkers, disease progression, and whether a treatment is actually moving cholesterol. Publishes with the Schultz Lab on NPC1 protein trafficking, including the common I1061T mutation. SOAR-NPC scientist.
Visit sitePorter Laboratory, NIH / NICHD
Dr. Forbes “Denny” Porter. The NIH NPC natural-history study, cyclodextrin trials, biomarkers, and gene-therapy groundwork with other SOAR labs. Clinical home for much of the U.S. NPC dataset.
Visit siteBerry-Kravis clinic, Rush University
Dr. Elizabeth Berry-Kravis. Rush is a major U.S. site for Adrabetadex expanded access and NPC trials. The Koujaian family and many others receive lumbar-puncture treatment here.
Visit siteHastings, UCSF Benioff Children’s
Dr. Caroline Hastings. First U.S. compassionate-use cyclodextrin protocol in children with NPC. Principal investigator on intravenous Trappsol Cyclo studies, including the TransportNPC newborn substudy.
Visit siteVite Laboratory, University of Florida
Dr. Charles Vite. The feline NPC1 colony used to test cyclodextrin, AAV gene therapy, and other candidates before they reach children. Previously at Penn; now at UF veterinary medicine. SOAR-NPC.
Visit siteLieberman Laboratory, University of Michigan
Dr. Andrew Lieberman, University of Michigan. Compound testing in NPC mouse models. Collaborates with Schultz and Cologna on how mutant NPC1 protein traffics and why some mutations respond to therapy.
Visit siteHung laboratory, The Florey
Dr. Ya Hui Hung at the Florey Institute. Preclinical mRNA gene therapy for NPC, including how to get functional mRNA across the blood-brain barrier.
Visit site Companies Miplyffa (arimoclomol) · NASDAQ: ZVRA Aqneursa (levacetylleucine) Zavesca / miglustat · NYSE: JNJ Adrabetadex (intrathecal cyclodextrin) Trappsol Cyclo (IV cyclodextrin) nizubaglustat · Phase 3 NAVIGATE AAV gene therapy · preclinical with NIH DL33 small molecule · Australia
Who is building the medicines.
Approval, a trial, or expanded access is not a recommendation for any one child. Read Treatments for how each idea works, then talk with an NPC specialist.
Zevra Therapeutics
FDA-approved September 2024 — first FDA-approved NPC treatment, taken with miglustat, for neurological symptoms, age 2 and up. Product site: miplyffa.com.
Visit siteIntraBio
FDA-approved September 2024 as a stand-alone oral therapy for neurological manifestations of NPC in people who weigh at least 15 kg. Product site: aqneursa.com.
Visit siteJohnson & Johnson (Actelion)
Substrate-reduction therapy used worldwide in NPC care, and the companion medicine for Miplyffa in the U.S.
Visit siteBeren Therapeutics / Mandos Health
Investigational. Expanded access has been a lifeline for many NPC children. Delivered into spinal fluid on a regular schedule. NDA under FDA review (PDUFA target 17 November 2026). Not a gene therapy.
Visit siteCyclo Therapeutics / Rafael Holdings
Phase 3 TransportNPC. Same broad cyclodextrin idea as adrabetadex, different product, dose, and delivery (intravenous). Early-treatment data in children under 3 have been presented.
Visit siteAzafaros
Oral brain-penetrant substrate-reduction approach. Global Phase 3 in NPC. Not approved.
Visit siteApertura Gene Therapy
Cooperative research agreement with NIH institutes to test Apertura’s TfR1 CapX AAV capsid for NPC1. Designed to cross the blood-brain barrier. Parseghian Fund is backing the multi-year effort. Not in patients yet.
Visit siteMeizon Innovations
DL33 is a small-molecule NPC candidate. GMP manufacturing and animal toxicology were underway toward a possible Phase 1. Not approved.
Visit site Rare-disease partners U.S. rare-disease umbrella Rare-disease advocacy Policy Europe
Not NPC-only. Still used by NPC families.
NORD
National Organization for Rare Disorders. NNPDF is a member.
Visit siteGlobal Genes
Education and tools for rare-disease families.
Visit siteEveryLife Foundation
Rare-disease policy and access work in the United States.
Visit siteEURORDIS
The European rare-disease alliance.
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