Fabry Disease
Recent clinical, regulatory, research and industry developments relating to this disease.
Marketing authorisation: Elfabrio (EMA)
Lentivirus-mediated gene therapy for Fabry disease.
Marketing authorisation: Galafold (EMA)
Marketing authorisation: Fabrazyme (EMA)
Marketing authorisation: Replagal (EMA)
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 5 clinical trials expected to report results, the earliest in Q4 2027.
- Q4 2027A Multicenter Open-Label Study to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Pegunigalsidase Alfa (PRX-102) in Japanese Patients With Fabry Disease (RISE)
- Q4 2027A Prospective, Open-label, Multicentre, Interventional, Single-arm, Phase IV Study to Evaluate the Safety and Efficacy of Replagal (Agalsidase Alfa [r-DNA Origin]) in Indian Children and Adults With Fabry Disease
- Q4 2027An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 2 to < 12 Years) With Fabry Disease and Amenable GLA Variants
- Q4 2028Multi-centre, Open-label Trial to Assess the saFety, Pharmacodynamics, Efficacy and Pharmacokinetics of pegunigaLsidase Alfa in Patients From 2 Years to Less Than 18 Years of Age With Confirmed FabrY Disease
- Q3 2029A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease
Clinical MilestonesView all 9Hide
- 2026-02-18Phase III, Open-label, Switch Over Trial of the Efficacy and Safety of Agalsidase Beta Biosidus (AGA BETA BS) in Fabry Disease Patients Previously Stabilized With Fabrazyme®Results posted
- 2026-02-05A Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA VariantsResults posted
- 2026-10-22An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 2 to < 12 Years) With Fabry Disease and Amenable GLA VariantsResults expected Q4 2027
- 2026-09-03A Prospective, Open-label, Multicentre, Interventional, Single-arm, Phase IV Study to Evaluate the Safety and Efficacy of Replagal (Agalsidase Alfa [r-DNA Origin]) in Indian Children and Adults With Fabry DiseaseResults expected Q4 2027
- 2026-08-31A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry DiseaseResults expected Q3 2029
- 2026-08-10Multi-centre, Open-label Trial to Assess the saFety, Pharmacodynamics, Efficacy and Pharmacokinetics of pegunigaLsidase Alfa in Patients From 2 Years to Less Than 18 Years of Age With Confirmed FabrY DiseaseResults expected Q4 2028
- 2026-03-18A Multicenter Open-Label Study to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Pegunigalsidase Alfa (PRX-102) in Japanese Patients With Fabry Disease (RISE)Results expected Q4 2027
- 2026-05-22A Randomized, Open-label, Parallel-group, 18-month Phase 3 Study to Evaluate the Effect of Venglustat Compared With Usual Standard of Care on Left Ventricular Mass Index in Participants With Fabry Disease and Left Ventricular HypertrophyPrimary completion
- 2026-04-13Open Label Extension Study to Evaluate the Long-term Safety and Efficacy of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Adult Patients With Fabry DiseaseCompleted
- 2026-10-22ClinicalAn Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 2 to < 12 Years) With Fabry Disease and Amenable GLA VariantsResults expected Q4 2027
- 2026-09-03ClinicalA Prospective, Open-label, Multicentre, Interventional, Single-arm, Phase IV Study to Evaluate the Safety and Efficacy of Replagal (Agalsidase Alfa [r-DNA Origin]) in Indian Children and Adults With Fabry DiseaseResults expected Q4 2027
- 2026-08-31ClinicalA Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry DiseaseResults expected Q3 2029
- 2026-08-10ClinicalMulti-centre, Open-label Trial to Assess the saFety, Pharmacodynamics, Efficacy and Pharmacokinetics of pegunigaLsidase Alfa in Patients From 2 Years to Less Than 18 Years of Age With Confirmed FabrY DiseaseResults expected Q4 2028
- 2026-05-22ClinicalA Randomized, Open-label, Parallel-group, 18-month Phase 3 Study to Evaluate the Effect of Venglustat Compared With Usual Standard of Care on Left Ventricular Mass Index in Participants With Fabry Disease and Left Ventricular HypertrophyPrimary completion
- 2026-04-13ClinicalOpen Label Extension Study to Evaluate the Long-term Safety and Efficacy of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Adult Patients With Fabry DiseaseCompleted
- 2026-03-18ClinicalA Multicenter Open-Label Study to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Pegunigalsidase Alfa (PRX-102) in Japanese Patients With Fabry Disease (RISE)Results expected Q4 2027
- 2026-02-18ClinicalPhase III, Open-label, Switch Over Trial of the Efficacy and Safety of Agalsidase Beta Biosidus (AGA BETA BS) in Fabry Disease Patients Previously Stabilized With Fabrazyme®Results posted
- 2026-02-05ClinicalA Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA VariantsResults posted
Therapeutic landscape
Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.
Original application approval — Elfabrio is indicated for long-term enzyme replacement therapy in adult patients with a c… (2023)
Original application approval — Galafold is indicated for long-term treatment of adults and adolescents aged 12 years and… (2016)
Original application approval — Replagal is indicated for long-term enzyme-replacement therapy in patients with a confirm… (2001)
Original application approval — Fabrazyme is indicated for long-term enzyme replacement therapy in patients with a confir… (2001)
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.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes2
- Fabry Disease1
- Multimodal Imaging1
Leading journals2
- European heart journal. Cardiovascular Imaging1
- Nature communications1
Leading researchers8
- Auray-Blais C1
- Barber DL1
- Bohbot Y1
- Boutin M1
- Brucato A1
- Cameli M1
- Castelletti S1
- Chaudhry A1
Affiliations (unnormalised)6
- Alberta Children's Hospital1
- Alberta Children's Hospital and Foothills Medical Centre1
- Barts Heart Centre1
- British Heart Foundation Centre for Cardiovascular Science1
- Cancer Clinical Research Unit1
- Cardiovascular and Genetics Research Institute1
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 X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.