Disease

Gaucher disease type 1

Late-stage therapeutic development

Also known as Non-cerebral juvenile Gaucher disease.

Clinical trials

Associated genes

Related proteins

Latest activity

beta

Recent clinical, regulatory, research and industry developments relating to this disease.

Approval: Cerdelga (EMA)

Regulatory2015-01-19EMA

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 Q4 2026.

Upcoming Milestones

Q4 2026A 4-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic, and Exploratory Efficacy of Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension

Major developments

Upcoming trial readoutHigh impact

A 4-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic, and Exploratory Efficacy of Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension

Results expected Q4 20262026-07-10

Clinical Milestones2View

Results expected 1

2026-07-10A 4-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic, and Exploratory Efficacy of Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy ExtensionResults expected Q4 2026

Recently completed 1

2025-12-31Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory MedicationsCompleted

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)

Eliglustatapproved

Approval — AdultsCerdelga is indicated for the long-term treatment of adult patients with Gaucher di… (2015)

Velaglucerase alfaapproved

Accelerated approval — Vpriv is indicated for long-term enzyme-replacement therapy (ERT) in patients with type-1… (2010)

Imigluceraseapproved

Approval — Cerezyme (imiglucerase) is indicated for use as longterm enzyme replacement therapy in pa… (1997)

Clinical trials

4 sponsors · 0 new · 1 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Late-stage studies

Open-label, Non Comparative, Multi-center Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Oral Miglustat as a Maintenance Therapy After a Switch From Enzyme Replacement Therapy in Adult Patients With Stable Type 1 Gaucher Disease

Phase 3 · Completed · Actelion

The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease

Phase 4 · Withdrawn · Baylor Research Institute

Recently completed

Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications

Phase 2 · Completed · University of Minnesota

Phase 3 · Completed · Actelion

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 ↗

2015emaApproval — Eliglustat· AdultsCerdelga is indicated for the long-term treatment of adult patients with Gaucher disease type 1 (GD1), who are CYP2D6 poor metabolisers (PMs), intermediate metabolisers (IMs) or extensive metabolisers (EMs).Paediatric population (from 6 to < 18 years of age) weighing ≥ 15 kgCerdelga is indicated for paediatric patients with GD1 who are 6 years and older with a minimum body weight of 15 kg, who are stable on enzyme replacement therapy (ERT), and who are CYP2D6 PMs, IMs or EMs.  source ↗

2010emaAccelerated approval — Velaglucerase alfa· Vpriv is indicated for long-term enzyme-replacement therapy (ERT) in patients with type-1 Gaucher 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 ↗

1997emaApproval — Imiglucerase· Cerezyme (imiglucerase) is indicated for use as longterm enzyme replacement therapy in patients with a confirmed diagnosis of non-neuronopathic (Type 1) or chronic neuronopathic (Type 3) Gaucher disease who exhibit clinically significant nonneurological manifestations of the disease. The non-neurological manifestations of Gaucher disease include one or more of the following conditions: anaemia after exclusion of other causes, such as iron deficiency Thrombocytopenia Bone disease after exclusion of other causes such as Vitamin D deficiency hepatomegaly or splenomegaly 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.

GBA10.81 UGCG0.50 SCARB20.38

Disease biology

2 matches

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

Lysosomal acid glucosylceramidasevia GBA10.81 Ceramide glucosyltransferasevia UGCG0.50

Reference

Authoritative identity, definition & identifiers.

Synonyms

Non-cerebral juvenile Gaucher 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.