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Disease

Fabry Disease

Late-stage therapeutic developmentEmerging research
MeSHFabry Disease
2
Publications
18
Clinical trials
2025
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

The role of cardiovascular multimodality imaging in the evaluation of Anderson-Fabry disease: from early diagnosis to therapy monitoring.

Research2025-04-01European heart journal. Cardiovascular Imaging

Approval: Elfabrio (EMA)

Regulatory2023-05-04EMA

Lentivirus-mediated gene therapy for Fabry disease.

Research2021-02-25Nature communications

Approval: Galafold (EMA)

Regulatory2016-05-25EMA

Approval: Fabrazyme (EMA)

Regulatory2001-08-03EMA

Approval: Replagal (EMA)

Regulatory2001-08-03EMA

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 5 clinical trials expected to report results, the earliest in Q4 2026.
Upcoming Milestones
Clinical Milestones9View all 9
Results posted 2
Results expected 5
Recently completed 2
+1 more in the activity timeline below
Activity timeline9

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Pegunigalsidase alfaapproved

Approval — Elfabrio is indicated for long-term enzyme replacement therapy in adult patients with a c… (2023)

Migalastat hydrochlorideapproved

Approval — Galafold is indicated for long-term treatment of adults and adolescents aged 12 years and… (2016)

Agalsidase alfaapproved

Approval — Replagal is indicated for long-term enzyme-replacement therapy in patients with a confirm… (2001)

Agalsidase betaapproved

Approval — Fabrazyme is indicated for long-term enzyme replacement therapy in patients with a confir… (2001)

Clinical trials

8 sponsors · 1 new · 1 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme
18
All trials
6
Active
18
Late-stage
6
Completed
Late-stage studies

Multi-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

Phase 2/3 · Recruiting · Chiesi Farmaceutici S.p.A.

A 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

Phase 3 · Active, not recruiting · Idorsia Pharmaceuticals Ltd.

A Multicenter Open-Label Study to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Pegunigalsidase Alfa (PRX-102) in Japanese Patients With Fabry Disease (RISE)

Phase 2/3 · Recruiting · Chiesi Farmaceutici S.p.A.

An 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

Phase 3 · Recruiting · Amicus Therapeutics

A 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 Hypertrophy

Phase 3 · Active, not recruiting · Sanofi

An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects With Fabry Disease and Amenable GLA Variants and Severe Renal Impairment or End-Stage Renal Disease Treated With Hemodialysis

Phase 3 · Active, not recruiting · Amicus Therapeutics
Recently completed

Open 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 Disease

Phase 3 · Completed · Chiesi Farmaceutici S.p.A.

A 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 Variants

Phase 3 · Completed · Amicus Therapeutics

Phase 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®

Phase 3 · Completed · Bio Sidus SA

An Open-label Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of REPLAGAL® in Treatment-naïve Chinese Subjects With Fabry Disease

Phase 3 · Completed · Takeda

A Phase 4, Open Label, Safety and Efficacy Study of Fabrazyme® (Agalsidase Beta) as Enzyme Replacement Therapy in Chinese Participants With Fabry Disease

Phase 4 · Completed · Genzyme, a Sanofi Company

A Randomized, Double Blind, Active Control Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function in Patients With Fabry Disease Previously Treated With Agalsidase Beta

Phase 3 · Completed · Protalix

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2023emaApproval — Pegunigalsidase alfa· Elfabrio is indicated for long-term enzyme replacement therapy in adult patients with a confirmed diagnosis of Fabry disease (deficiency of alpha-galactosidase). source ↗
2016emaApproval — Migalastat hydrochloride· Galafold is indicated for long-term treatment of adults and adolescents aged 12 years and older with a confirmed diagnosis of Fabry disease (α-galactosidase A deficiency) and who have an amenable mutation (see the tables in section 5.1). source ↗
2001emaApproval — Agalsidase alfa· Replagal is indicated for long-term enzyme-replacement therapy in patients with a confirmed diagnosis of Fabry disease (?-galactosidase-A deficiency). source ↗
2001emaApproval — Agalsidase beta· Fabrazyme is indicated for long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease (?-galactosidase-A deficiency). source ↗

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

2 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20212025
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

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

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.

Identifiers
MeSHFabry Disease
References & data sources
  • 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.