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Disease

Niemann-Pick Disease, Type C

Late-stage therapeutic developmentEmerging researchRising momentum
MeSHNiemann-Pick Disease, Type C
3
Publications
11
Clinical trials
4
Associated genes
1
Related proteins
2025
Latest publication
Current focus
Ceramide glucosyltransferase biologyTherapeutic developmentGenetics & risk factors
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low
Key developments
  • 1 clinical trial expected to report results, the earliest in Q2 2030.
Upcoming Milestones
Clinical Milestones2View
Results posted 1
Results expected 1
Activity timeline2

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Miglustatapproved

Approval — Miglustat Dipharma is indicated for the oral treatment of adult patients with mild to mod… (2019)

Clinical trials

8 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
11
All trials
1
Active
6
Late-stage
6
Completed
Late-stage studies

Effects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study

Phase 3 · Recruiting · IntraBio Inc

Arimoclomol Prospective Double-blind, Randomised, Placebo-controlled Study in Patients Diagnosed With Niemann-Pick Disease Type C

Phase 2/3 · Completed · ZevraDenmark

A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects

Phase 4 · Completed · Actelion

A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease

Phase 2/3 · Completed · Mandos LLC

A Phase 2B/3 Prospective, Randomized, Double-Blind, Sham-Controlled Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease

Phase 2/3 · Terminated · Mandos LLC

A Phase 2B/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301

Phase 2/3 · Terminated · Mandos LLC
Recently completed

Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C

Phase 1/2 · Completed · Washington University School of Medicine

Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study.

Phase 2 · Completed · IntraBio Inc

A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects

Phase 4 · Completed · Actelion

Arimoclomol Prospective Double-blind, Randomised, Placebo-controlled Study in Patients Diagnosed With Niemann-Pick Disease Type C

Phase 2/3 · Completed · ZevraDenmark

A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease

Phase 2/3 · Completed · Mandos LLC

Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine

Phase 1/2 · Completed · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2019emaApproval — Miglustat· Miglustat Dipharma is indicated for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease. Miglustat Dipharma may be used only in the treatment of patients for whom enzyme replacement therapy is unsuitable. Miglustat Dipharma is indicated for the treatment of progressive neurological manifestations in adult patients and paediatric patients with Niemann-Pick type C disease. source ↗
2017emaApproval — Miglustat· Miglustat Gen.Orph is indicated for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease.  Miglustat Gen.Orph may be used only in the treatment of patients for whom enzyme replacement therapy is unsuitable. Miglustat Gen.Orph is indicated for the treatment of progressive neurological manifestations in adult patients and paediatric patients with Niemann-Pick type C disease. source ↗
2017emaApproval — Miglustat· Yargesa is indicated for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease. Yargesa may be used only in the treatment of patients for whom enzyme replacement therapy is unsuitable. Yargesa is indicated for the treatment of progressive neurological manifestations in adult patients and paediatric patients with Niemann-Pick type C disease. source ↗
2002emaApproval — Miglustat· Zavesca is indicated for the oral treatment of adult patients with mild to moderate type-1 Gaucher disease. Zavesca may be used only in the treatment of patients for whom enzyme replacement therapy is unsuitable. Zavesca is indicated for the treatment of progressive neurological manifestations in adult patients and paediatric patients with Niemann-Pick type-C disease. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Research activity

3 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20232025
Major themes8
  • Niemann-Pick Disease, Type C3
  • Neurons2
  • Endothelial Cells1
  • Genetic Therapy1
  • Graphite1
  • Machine Learning1
  • Microelectrodes1
  • Nervous System Diseases1
Leading journals3
  • Advanced science (Weinheim, Baden-Wurttemberg, Germany)1
  • Fluids and barriers of the CNS1
  • Orphanet journal of rare diseases1
Leading researchers8
  • Brassier A1
  • Brockhoff M1
  • Broué P1
  • Burkhart A1
  • Burton OJ1
  • Cances C1
  • Chabrol B1
  • Dahmani-Rabehi B1
Affiliations (unnormalised)6
  • Aalborg University1
  • Aarhus University1
  • Department of Clinical Biochemistry1
  • Haguenau Hospital1
  • INSERM U1037 (Cancer Research Centre of Toulouse)1
  • Institute of Experimental and Clinical Pharmacology and Toxicology1

Associated genes

4 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

NPC10.80NPC20.76UGCG0.50PPT20.06

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Ceramide glucosyltransferasevia UGCG0.50

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.

Identifiers
MeSHNiemann-Pick Disease, Type C
References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.