Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
Connect with organizations supporting the Gaucher disease type I community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
2 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
AI-curated news mentioning Gaucher disease type I
Updated Feb 5, 2026
A systematic review evaluates the therapeutic profile of velaglucerase alfa in pediatric patients with Gaucher disease across all age groups. This research provides insights into the drug's efficacy and safety in younger populations.
Sanofi's drug for Gaucher disease shows promise in recent trials, achieving a 1-for-2 success rate. This development could pave the way for its market entry, following a history of setbacks.
Sanofi plans to submit venglustat for regulatory approval in Gaucher disease following positive Phase III trial results, while the future for Fabry disease remains uncertain after a trial failure. This dual outcome highlights the complexities of rare disease drug development.