About Niemann-Pick Disease
Niemann-Pick disease encompasses several lysosomal storage disorders. Types A and B are caused by acid sphingomyelinase deficiency (SMPD1 mutations); Type A is severely neuronopathic with death in early childhood while Type B is a milder visceral form. Type C is caused by NPC1 or NPC2 mutations causing defective cholesterol trafficking and is characterised by progressive neurological decline. Arimoclomol is approved in the EU for NPC. Multiple clinical trials are active for NPC and for next-generation enzyme replacement for Types A/B.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Niemann-Pick Disease trials.
Vertical supranuclear gaze palsy is the clinical hallmark of NPC — if present, request NPC1/NPC2 gene sequencing and filipin staining urgently.
Plasma oxysterol biomarkers (24S-OHC, 25-OHC) are validated diagnostic and monitoring tools for NPC — ask your metabolic specialist about the NPC biomarker panel.
The National Niemann-Pick Disease Foundation maintains a patient contact database actively used by researchers — register before applying to trials.
Patient Resources
Find recruiting Niemann-Pick Disease trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Niemann-Pick Disease. Updated daily.