Gaucher disease
Also known as Gaucher syndrome, Gaucher's disease, acid beta-glucosidase deficiency, glocucerebrosidase deficiency+13 more
Gaucher syndrome, Gaucher's disease, acid beta-glucosidase deficiency, glocucerebrosidase deficiency, glucocerebrosidase deficiency, glucocerebrosidosis, glucosylceramidase deficiency, glucosylceramide beta-glucosidase deficiency, kerasin thesaurismosis, lipoid histiocytosis (kerasin type), Gaucher splenomegaly, cerebroside lipidosis syndrome, glucosyl cerebroside lipidosis, kerasin histiocytosis, kerasin lipoidosis, sphingolipidosis 1, acute cerebral Gaucher disease.
Recent clinical, regulatory, research and industry developments relating to this disease.
Generic medicine authorisation: Miglustat Dipharma (EMA)
Generic medicine authorisation: Miglustat Gen.Orph (EMA)
Generic medicine authorisation: Yargesa (EMA)
Marketing authorisation: Cerdelga (EMA)
Marketing authorisation: Vpriv (EMA)
Marketing authorisation: Zavesca (EMA)
Marketing authorisation: Cerezyme (EMA)
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 2 clinical trials expected to report results, the earliest in Q1 2027.
Clinical MilestonesViewHide
- 2026-08-19An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose LY3884961 in Infants With Type 2 Gaucher DiseaseResults expected Q1 2027
- 2026-03-17PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)Results expected Q3 2031
- 2027-12-01Guard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25Withdrawn
- 2026-03-30Ambroxol in Type III Gaucher Disease (GD3): A Prospective 6-Month Single-Center Open-Label Study With an Optional 12-month Extension PhaseTerminated
- 2027-12-01ClinicalGuard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25Withdrawn
- 2026-10-30ClinicalA 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 ExtensionPrimary completion
- 2026-08-19ClinicalAn Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose LY3884961 in Infants With Type 2 Gaucher DiseaseResults expected Q1 2027
- 2026-03-30ClinicalAmbroxol in Type III Gaucher Disease (GD3): A Prospective 6-Month Single-Center Open-Label Study With an Optional 12-month Extension PhaseTerminated
- 2026-03-17ClinicalPEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)Results expected Q3 2031
Therapeutic landscape
Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.
Generic approval — Miglustat Dipharma is indicated for the oral treatment of adult patients with mild to mod… (2019)
Original application approval — AdultsCerdelga is indicated for the long-term treatment of adult patients with Gaucher di… (2015)
Original application approval — Vpriv is indicated for long-term enzyme-replacement therapy (ERT) in patients with type-1… (2010)
Original application approval — Cerezyme (imiglucerase) is indicated for use as longterm enzyme replacement therapy in pa… (1997)
Clinical trials
The current development programme across all trial phases.
Regulatory timeline
Drug regulatory events matched to this condition by indication — EMA.
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
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Gaucher syndrome, Gaucher's disease, acid beta-glucosidase deficiency, glocucerebrosidase deficiency, glucocerebrosidase deficiency, glucocerebrosidosis, glucosylceramidase deficiency, glucosylceramide beta-glucosidase deficiency, kerasin thesaurismosis, lipoid histiocytosis (kerasin type), Gaucher splenomegaly, cerebroside lipidosis syndrome, glucosyl cerebroside lipidosis, kerasin histiocytosis, kerasin lipoidosis, sphingolipidosis 1, acute cerebral Gaucher disease
- 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.