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 8, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 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 8, 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
3 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
No approved therapies yet
Research is ongoing — 22 companies have orphan drug designations 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 Fabry disease
Updated Feb 9, 2026
UniQure pauses two dose groups in its mid-stage study for Fabry disease due to liver toxicities associated with its gene therapy. The therapy aims to restore the alpha-galactosidase enzyme, crucial for preventing lipid accumulation in affected patients.
UniQure has paused dosing in its Fabry disease trial due to safety concerns, particularly regarding liver enzyme elevations that have led to fatalities in some cases. Currently, enzyme replacement therapy (ERT) remains the only treatment option for patients, necessitating biweekly infusions.
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.