RecruitingPhase 4NCT05067868
Metabolic
Fabry Disease
Also known as Alpha-galactosidase A deficiency, GLA deficiency, Anderson-Fabry disease
Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A. Without this enzyme, a fatty substance called globotriaosylceramide (Gb3) builds up in blood vessel walls and orga
ORPHA:324 ↗Gene GLAPrevalence 1-5 per 10,000 (Orphanet)Onset Adolescent, Adult, ChildhoodX-linked genetic
38
studies recruiting now
as of 7 Sept 2026
256
studies registered in total
as of 7 Sept 2026
10
countries with a recruiting site
as of 7 Sept 2026
1 Apr 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT06904261
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
RecruitingNCT01581424
Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
RecruitingNCT06610019
Cardiovascular Multimodality Imaging Study
RecruitingPhase 2 / Phase 3NCT06328608
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 38 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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Registry: Fabry Registry (Sanofi) · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Fabry Disease
Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, which encodes the enzyme alpha-galactosidase A. Without this enzyme, a fatty substance called globotriaosylceramide (Gb3) builds up in blood vessel walls and organs. This leads to pain crises, kidney failure, heart disease, and stroke, typically beginning in childhood.
Common clinical features
ArthralgiaMyalgiaAbdominal painTransient ischemic attackDecreased alpha-galactosidase A activityMucosal telangiectasiaeAbnormal glycosphingolipid metabolismCorneal opacity
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
5 approved treatments and 9 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Agalsidase Alfa (Replagal)Approved: Agalsidase Beta (Fabrazyme)Approved: Migalastat Hydrochloride (Galafold)Approved: Migalastat (At-1001, gr-181314a)Approved: Pegunigalsidase Alfa (Elfabrio)
Phase 3Venglustat
Phase 3Lucerastat
Phase 3Tilactase
Phase 2Dapagliflozin (Dapagliflozin component of br1019)
Phase 2Al-01211
Phase 1/2Apabetalone
Phase 1/2Voxeralgagene Autotemcel
Phase 1/2Duvalgagene Otiparvovec
+ 1 more in development
Before you apply
Things trial teams commonly ask about for Fabry Disease. Not eligibility rules; those are set by each study.
- Enzyme replacement therapy (ERT) history is often an eligibility factor - some trials exclude patients already on ERT
- GLA mutation type matters: classic versus late-onset variants may have separate trial arms
- Kidney function (eGFR) and proteinuria levels are common baseline requirements
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).