About Niemann-Pick Disease Type C
Niemann-Pick disease type C is a lysosomal lipid storage disorder caused by mutations in NPC1 (95% of cases) or NPC2, proteins required for intracellular cholesterol trafficking. Unesterified cholesterol and sphingolipids accumulate in lysosomes of neurons and visceral cells, causing progressive neurological deterioration including vertical supranuclear gaze palsy, ataxia, dementia, and seizures. Miglustat (Zavesca) is approved in Europe to slow neurological progression.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Niemann-Pick Disease Type C trials.
Plasma oxysterol (7-ketocholesterol, 3beta,5alpha,6beta-cholestane-triol) testing is a validated biomarker for enrollment and monitoring
Miglustat (Zavesca) is approved in Europe — trials may study arimoclomol, cyclodextrin, or combination approaches; prior miglustat use must be documented
Neurological severity scale (NPC-CSS or 5-domain scale) score is a key eligibility and efficacy endpoint
NPC1 versus NPC2 genotype and specific variant class may affect trial eligibility for gene therapy trials
Patient Resources
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