RecruitingNCT05588167
Metabolic
Niemann-Pick Disease Type C
Also known as NPC, NPC1 deficiency, NPC2 deficiency, lysosomal cholesterol transport defect
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 lyso
ORPHA:646 ↗Gene NPC1Gene NPC2Prevalence 1-9 per 100,000 (Orphanet)Onset Infantile, Childhood, Adolescent, AdultAutosomal recessive genetic
7
studies recruiting now
as of 7 Sept 2026
43
studies registered in total
as of 7 Sept 2026
17
countries with a recruiting site
as of 7 Sept 2026
10 Feb 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT00344331
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
RecruitingPhase 3NCT07082725
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)
RecruitingPhase 3NCT07054515
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
RecruitingPhase 2NCT07399704
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 7 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
Vertical supranuclear gaze palsyCerebellar ataxiaDystoniaGelastic cataplexyDementiaSeizuresHepatosplenomegaly
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 approved treatments and 7 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Arimoclomol Citrate (Miplyffa)Approved: Levacetylleucine (Aqneursa)Approved: Miglustat (Miglustat dipharma)
Phase 32-Hydroxypropyl-Beta-Cyclodextrin
Phase 3Adrabetadex
Phase 3Nizubaglustat
Phase 2/3Arimoclomol
Phase 2Trenonacog Alfa (Ixinity[tm])
Phase 1/2Acetylcysteine (A-cys)
Phase 1 (early)Lithium Carbonate (Camcolit 250)
Before you apply
Things trial teams commonly ask about for Niemann-Pick Disease Type C. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).