Diseases / Fabry Disease
Fabry Disease Clinical Trials
DiseaseFabry disease is a rare X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity, resulting in progressive glycosphingolipid accumulation across multiple organs. It can present with neuropathic pain, angiokeratomas, hypohidrosis, renal dysfunction, cardiac disease, and cerebrovascular complications. Disease progression is multisystemic and often severe without treatment.
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Recruiting Phase 3
| Trial | Phase | Status | Sponsor | Started |
|---|---|---|---|---|
| A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants NCT06904261 | Phase 3 | Recruiting | Amicus Therapeutics | Started 2026-01 |
| A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease NCT06328608 | Phase 2/3 | Recruiting | Chiesi Farmaceutici S.p.A. | Started 2025-07 |
| Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry Disease NCT05710692 | Phase 2/3 | Recruiting | Chiesi Farmaceutici S.p.A. | Started 2023-08 |
Recently started
| Trial | Phase | Status | Sponsor | Started |
|---|---|---|---|---|
| A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease NCT07778667 | Phase 3 | Not yet recruiting | Idorsia Pharmaceuticals Ltd. | Started 2026-09 |
| Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF) NCT07560956 | Phase unknown | Enrolling by invitation | Vastra Gotaland Region | Started 2026-08 |
| Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting NCT07109375 | Phase unknown | Recruiting | Chiesi Italia | Started 2026-06 |
| Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE) NCT07575347 | Phase unknown | Recruiting | Stefan Lujinschi | Started 2026-05 |
| Care Pathway for Patients With Fabry's Disease (Fabry-PATH) NCT07485660 | Phase unknown | Not yet recruiting | University Hospital, Toulouse | Started 2026-04 |
Results recently posted
| Trial | Phase | Status | Sponsor | Results posted |
|---|---|---|---|---|
| A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190 NCT04455230 | Phase 1/2 | Terminated | Spur Therapeutics | Results posted 2026-09-03 |
| A Fabry Disease Gene Therapy Study NCT04040049 | Phase 1/2 | Terminated | Spur Therapeutics | Results posted 2026-08-06 |
| Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR) NCT04046224 | Phase 1/2 | Completed | Sangamo Therapeutics | Results posted 2026-04-14 |
| Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease NCT03566017 | Phase 3 | Completed | Chiesi Farmaceutici S.p.A. | Results posted 2026-03-24 |
| Switch Over Study of Biosimilar Agalsidase Beta for Fabry Disease NCT05843916 | Phase 3 | Completed | Bio Sidus SA | Results posted 2026-02-18 |
Pipeline
Phase by status
| Phase | Recruiting | Not yet | By invitation | Active | Completed | Terminated | Withdrawn | Unknown | Approved for marketing | Available | No longer available | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Early Phase 1 | 1 | — | — | — | — | — | — | — | — | — | — | 1 |
| Phase 1 | — | — | — | — | 11 | 1 | — | — | — | — | — | 12 |
| Phase 1/2 | 2 | 1 | — | 1 | 3 | 3 | 1 | — | — | — | — | 11 |
| Phase 2 | — | — | — | — | 16 | 2 | 1 | 2 | — | — | — | 21 |
| Phase 2/3 | 2 | — | — | — | — | — | — | — | — | — | — | 2 |
| Phase 3 | 1 | 1 | — | 4 | 18 | 2 | 1 | 1 | — | — | — | 28 |
| Phase 4 | 1 | — | — | — | 8 | 1 | 2 | 1 | — | — | — | 13 |
| Not applicable | 4 | — | — | 1 | 13 | 1 | — | 3 | — | — | — | 22 |
| Unknown | 26 | 3 | 3 | 4 | 50 | 6 | 5 | 30 | 1 | 2 | 1 | 131 |
Trials started per year
Conditions studied, by phase
| Condition | Early Phase 1 | Phase 1 | Phase 1/2 | Phase 2 | Phase 2/3 | Phase 3 | Phase 4 | Not applicable | Unknown | Total |
|---|---|---|---|---|---|---|---|---|---|---|
| Fabry Disease | 1 | 12 | 11 | 21 | 2 | 28 | 13 | 22 | 131 | 241 |
| Lysosomal Storage Diseases | — | 2 | 6 | — | — | 1 | 1 | 1 | 7 | 18 |
| Stroke | — | 1 | — | 4 | — | — | 1 | — | 10 | 16 |
| Cardiomyopathy, Hypertrophic | — | — | — | — | — | — | — | 1 | 8 | 9 |
| Renal Insufficiency, Chronic | — | — | — | 1 | — | — | — | — | 7 | 8 |
| Cardiomyopathies | — | — | — | — | — | — | 1 | — | 6 | 7 |
| Gaucher Disease | — | — | — | — | — | — | — | 2 | 5 | 7 |
| Proteinuria | — | — | — | — | — | 3 | — | 1 | 3 | 7 |
| Kidney Diseases | — | — | 1 | — | — | 1 | — | — | 4 | 6 |
| Rare Diseases | — | — | — | — | — | — | — | 1 | 5 | 6 |
Most active sponsors
| # | Sponsor | Trials | Phase 3 |
|---|---|---|---|
| 1 | Amicus Therapeutics | 24 | 8 |
| 2 | Genzyme, a Sanofi Company | 17 | 2 |
| 3 | Shire | 12 | 4 |
| 4 | National Institute of Neurological Disorders and Stroke (NINDS) | 11 | 0 |
| 5 | Chiesi Farmaceutici S.p.A. | 8 | 4 |
| 6 | CENTOGENE GmbH Rostock | 6 | 0 |
| 7 | Protalix | 6 | 4 |
| 8 | Sanofi | 6 | 2 |
| 9 | Idorsia Pharmaceuticals Ltd. | 5 | 3 |
| 10 | Yonsei University | 5 | 0 |
Most studied interventions
| # | Intervention | Trials |
|---|---|---|
| 1 | agalsidase beta | 28 |
| 2 | migalastat | 28 |
| 3 | agalsidase alfa | 24 |
| 4 | larazotide acetate | 19 |
| 5 | Enzyme Replacement Therapy | 5 |
| 6 | alpha-Galactosidase | 4 |
| 7 | Blood Specimen Collection | 4 |
| 8 | venglustat | 4 |
| 9 | Mass Screening | 3 |
| 10 | Echocardiography | 2 |
Terminations
Stated reasons
Reasons are grouped from the sponsor's own wording with a rule-based classifier; the original text is shown below.
Recently stopped
| Trial | Status | Stated reason | Stopped |
|---|---|---|---|
| NCT03886714 Terminated | Terminated | Low recreuitement numbers and end of grant. | 2025-04-10 |
| NCT05699265 Terminated | Terminated | The sponsor withdrew funding since there was no progress with this study for a significant amount of time. | 2025-04-01 |
| NCT00230607 Terminated | Terminated | Per FDA decision, the 2003 Post Marketing commitment has been fulfilled. | 2024-02-09 |
| NCT04455230 Terminated | Terminated | The study was suspended early due to a corporate financial decision. A final SAP was written to specify the impact on final outcome measurements. | 2023-09-28 |
| NCT04999059 Terminated | Terminated | This study was voluntarily terminated due to a business decision not to proceed, and not due to any safety or efficacy issue. | 2023-08-16 |
| NCT04040049 Terminated | Terminated | Freeline has decided to pause development of FLT190 in Fabry disease to focus its resources on advancing FLT201. | 2023-05-02 |
| NCT04840667 Terminated | Terminated | Study closed due to enrolment challenges, not for any safety issues | 2022-12-16 |
| NCT03228940 Withdrawn | Withdrawn | Changed development priorities | 2022-11-22 |
| NCT03454893 Terminated | Terminated | AVROBIO has deprioritized its Fabry disease program | 2022-03-14 |
| NCT02778295 Withdrawn | Withdrawn | Transition into BioMetabol | 2021-02-28 |
Evidence
- Results reported
- 42%50 of 119 completed
- Published
- 10.9%13 of 119 completed
- Primary endpoint met
- 45.5%5 of 11 analyses
- Median months to report
- 22.5
Documents disclosed
Trial profile
- Median enrollment
- 40
- Median duration
- 36.7months
- Countries
- 58
- Study sites
- 1428
Who is enrolled
Median enrollment by phase
- Early Phase 1
- 6
- Phase 1
- 14
- Phase 1/2
- 16
- Phase 2
- 16
- Phase 2/3
- 19
- Phase 3
- 33
- Phase 4
- 15
- Not applicable
- 51
- Unknown
- 100
Where trials run
Busiest cities
| # | City | Country | Trials |
|---|---|---|---|
| 1 | Fairfax | United States | 41 |
| 2 | London | United Kingdom | 36 |
| 3 | Atlanta | United States | 29 |
| 4 | Dallas | United States | 23 |
| 5 | Iowa City | United States | 21 |
| 6 | New York | United States | 20 |
| 7 | Birmingham | United States | 19 |
| 8 | Parkville | Australia | 19 |
| 9 | Pittsburgh | United States | 19 |
| 10 | Cincinnati | United States | 18 |