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Disease

Niemann-Pick disease

Late-stage therapeutic development
Also known as Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, lipoid histiocytosis, lipoid histiocytosis (classical phosphatide)+4 more

Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, lipoid histiocytosis, lipoid histiocytosis (classical phosphatide), sphingomyelin lipidosis, sphingomyelin/cholesterol lipidosis, sphingomyelinase deficiency disease, type A Niemann-Pick disease.

14
Clinical trials
3
Associated genes
1
Related proteins

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.
  • 1 industry development reported.
Upcoming Milestones
Clinical Milestones2View
Results posted 1
Results expected 1
Industry & Market1View
Activity timeline3

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

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

The current development programme across all trial phases.

Clinical programme
14
All trials
1
Active
7
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

Application of Miglustat in Patients With Niemann-Pick Type C

Phase 3 · Completed · National Taiwan University Hospital

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
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

Application of Miglustat in Patients With Niemann-Pick Type C

Phase 3 · Completed · National Taiwan University Hospital

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.

Associated genes

3 matches

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

SMPD10.67NPC10.61NPC20.46

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.

Sphingomyelin phosphodiesterasevia SMPD10.67

Reference

Authoritative identity, definition & identifiers.

Synonyms

Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, lipoid histiocytosis, lipoid histiocytosis (classical phosphatide), sphingomyelin lipidosis, sphingomyelin/cholesterol lipidosis, sphingomyelinase deficiency disease, type A Niemann-Pick disease

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.