Back to discover
Disease

Fabry Disease

Late-stage therapeutic developmentEmerging research
MeSHFabry Disease
2
Publications
18
Clinical trials
6
Associated genes
1
Related proteins
2025
Latest publication
Current focus
Ceramide glucosyltransferase biologyTherapeutic developmentDiagnosis & biomarkers
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

Associated genes

6 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

GLA0.89UGCG0.39HNRNPH20.18MYLK20.11LAMB40.07SCGB2A20.04

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Ceramide glucosyltransferasevia UGCG0.39

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.