Niemann-Pick Disease Type C

Research Updates (10)Clinical Trials (15)

Browse recruiting and upcoming clinical trials for Niemann-Pick disease type C.

Patient-friendly, AI-assisted summaries based on official ClinicalTrials.gov ↗ records. Last updated: Oct 10, 2026

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ClinicalTrials.gov is the complete and most up-to-date source. Trials may be missing, and trial information may have changed since our last check. Always verify important information in the official registry.

9 trials + 6 related

Showing 9 trials, plus 6 related

Recruiting
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)
NCT07082725
Who can join AIPeople aged ≥4 years with confirmed late‑infantile or juvenile Niemann‑Pick type C disease and ataxia (SARA score 3–30).
What is being studied AICompares daily oral nizubaglustat versus placebo on ataxia and safety over 18 months.
Study typeTreatment (drug) · Phase 3
CountriesArgentina, Australia, Brazil +12
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Recruiting
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
NCT07054515
Who can join AIPeople aged 4 years and older with late‑infantile or juvenile Niemann‑Pick type C, GM1, or GM2 gangliosidosis.
What is being studied AITests oral nizubaglustat (AZ-3102) versus placebo for childhood-onset NPC, GM1, and GM2.
Study typeTreatment (drug) · Phase 3
CountriesArgentina, Australia, Brazil +14
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Recruiting
Retinal Hyperspectral Imaging in Neurodegenerative Diseases
NCT07545473
Who can join AIPeople aged 30+ with dementia or other neurodegenerative diseases (e.g., Alzheimer’s, Parkinson’s, Lewy body, frontotemporal, vascular, Niemann‑Pick type 2) and age/sex‑matched controls.
What is being studied AITests whether hyperspectral retinal imaging detects retinal changes linked to neurodegenerative diseases.
Study typeOther
CountriesAustralia
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Recruiting
Longitudinal Study of Neurodegenerative Disorders
NCT03333200
Who can join AIPeople with rare genetic neurodegenerative disorders (for example MLD, Krabbe disease, ALD, Batten disease, Gaucher disease, Niemann‑Pick disease, and others).
What is being studied AIRegular clinical evaluations, developmental testing, MRI, and collection of blood, CSF, and urine biomarkers.
Study typeObservational
CountriesUnited States
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Trials that may include Niemann-Pick disease type C (6)

ClinicalTrials.gov returned these when we searched for this condition, but we could not confirm from the registry records that they are intended for people with it. Check each trial’s eligibility criteria, and ask the study team if you are unsure.

Recruiting
A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)
NCT06192576
Who can join AIPeople with acid sphingomyelinase deficiency (Niemann‑Pick disease); primarily infants under 2 years, with ASMD type A also eligible regardless of age.
What is being studied AICollects long-term safety data and anti-olipudase alfa antibody (immunogenicity) results in infants.
Study typeObservational
CountriesUnited States
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Recruiting
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
NCT05992532
Who can join AIAdults (18–99) with unexplained splenomegaly, prior splenectomy of unknown cause, or thrombocytopenia being screened for Gaucher disease and ASMD.
What is being studied AIPrevalence of Gaucher disease and ASMD using dried blood spot (DBS) testing in targeted patients.
Study typeObservational
CountriesSpain
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Not yet recruiting
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
NCT06258577
Who can join AIPeople with splenomegaly and/or thrombocytopenia being screened for Gaucher disease or acid sphingomyelinase deficiency.
What is being studied AITests blood-based enzyme activity, plasma lyso‑lipids, and gene sequencing to screen for Gaucher disease and ASMD.
Study typeObservational
CountriesTaiwan
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