RecruitingPhase 1NCT02254863
Metabolic
Niemann-Pick Disease
Also known as Sphingomyelin lipidosis, NPC1, NPC2, Niemann-Pick type C
Niemann-Pick disease encompasses several distinct conditions. Types A and B involve SMPD1 gene mutations causing sphingomyelin accumulation.
Gene SMPD1 (Types A and B)Gene NPC1Gene NPC2 (Type C)Prevalence 1-9 per 100,000 (Orphanet)Onset All agesGenetic (autosomal recessive)
12
studies recruiting now
as of 7 Sept 2026
78
studies registered in total
as of 7 Sept 2026
17
countries with a recruiting site
as of 7 Sept 2026
24 Jul 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT05588167
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
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
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 12 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
Niemann-Pick disease encompasses several distinct conditions. Types A and B involve SMPD1 gene mutations causing sphingomyelin accumulation. Type C, the most researched, involves NPC1 or NPC2 mutations that impair intracellular cholesterol transport. NPC causes progressive neurodegeneration including vertical supranuclear gaze palsy, ataxia, and dementia. It is often called "childhood Alzheimer's."
Common clinical features
HepatomegalyProgressive neurologic deteriorationVertical supranuclear gaze palsyDysphagiaLow cholesterol esterification rateAtypical behaviorJaundiceSplenomegaly
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Niemann-Pick Disease. Not eligibility rules; those are set by each study.
- Type A, B, or C must be specified - they have different genes and very different trials
- For NPC: NPC1 versus NPC2 mutation and neurological severity are key eligibility factors
- Biomarkers like plasma oxysterols and lyso-sphingomyelin are increasingly used in 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).