Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Connect with organizations supporting the Fabry disease 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.
Age of onset indicates when symptoms typically first appear.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Patient organization involved in 2 clinical trial(s) for rare diseases.
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
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
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 Fabry disease
Updated Feb 6, 2026
BioMarin Pharmaceutical acquires Amicus Therapeutics for $4.8 billion, enhancing its portfolio in rare enzyme disorders. Amicus's products for Fabry disease and Pompe disease are expected to achieve blockbuster status.
A recent study highlights the significant cardiovascular morbidity and mortality associated with Fabry disease. This research underscores the need for increased awareness and targeted interventions for patients suffering from this rare condition.
A study from Ninghai County, Zhejiang Province, highlights successful high-risk and family screening for Fabry disease, focusing on the GLA IVS4+919G>A variant. The genotype-phenotype analysis provides valuable insights into the disease's manifestation in affected families.
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.