Condition (MeSH)
Fabry Disease
ClinicalTrials.gov lists 241 trials for Fabry Disease or a narrower condition beneath it. Amicus Therapeutics has the most among industry and government lead sponsors, with 24.
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Trials per phase (log scale)
1 more section with rows
241 of the 241 trials are tagged with Fabry Disease itself; the rest are tagged with a narrower condition beneath it.
When did Fabry Disease trials start? (30)
Shown in this order: most recent first, 1990 onwards. 2026 is partial: trials registered with a 2026 start date so far, not a full year.
Trials over time, by phase
- Phase 1
- Phase 1/2
- Phase 2
- Phase 2/3
- Phase 3
- Phase 4
- Not applicable
- Observational
Top of scale: 22
Trials registered with a start date in each year, 1990 onward, stacked by phase (complete years only; the current partial year is in the table's notes). The table below lists the same counts, most recent years first.
| Year | Trials started |
|---|---|
| 2026 (partial year) | 8 |
| 2025 | 11 |
| 2024 | 9 |
| 2023 | 22 |
| 2022 | 14 |
| 2021 | 14 |
| 2020 | 13 |
| 2019 | 12 |
| 2018 | 12 |
| 2017 | 7 |
Showing 10 of 30 earlier years.
Forecast of the full-year count, planned starts included, not rows of this table: about 11 trials starting in 2026 and about 12 in 2027, the average of the 24 months through September, counted as registered and carried forward. The rows of this table count trials registered so far with a start date in the year, planned starts included; the forecast looks ahead to the count for the whole year, so it is not the same measure. In backtests on conditions of this size, forecasts made part-way through the year were typically off by about 28 percent and ran about 20 percent low against the count later registered; forecasts made before the year began were off by about 39 percent and ran about 37 percent low against the count later registered. These figures rest on a few years of history (target years from 2018 to 2025, varying by figure), place each condition as it is mapped today rather than as it was then, and score against a count for the newest year that was still being revised. Only condition series were scored.
Prediction, not a registry value: median of 36 months from start to primary completion across 12 trials still running at the 2026-10-09 snapshot; registered median of 32 months across 127 trials with a primary completion typed Actual. Source: ClinicalTrials.gov / AACT (CTTI), public domain.
What phase are Fabry Disease trials in? (9)
Shown in this order: phase order.
Show the trials by phase as a table
| Phase | Trials |
|---|---|
| Phase 1 | 13 |
| Phase 1/2 | 11 |
| Phase 2 | 21 |
| Phase 2/3 | 2 |
| Phase 3 | 28 |
| Phase 4 | 13 |
| Not applicable | 22 |
| Observational | 127 |
| Expanded access | 4 |
How many Fabry Disease trials are recruiting? (11)
Shown in this order: the order a trial moves through, from not yet recruiting to unknown.
| Status | Trials |
|---|---|
| Not yet recruiting | 5 |
| Recruiting | 37 |
| Enrolling by invitation | 3 |
| Active, not recruiting | 10 |
| Available | 2 |
Showing 5 of 11 statuses.
Status as registered on ClinicalTrials.gov. Each trial is counted once.
Which lead sponsors run the most Fabry Disease trials? (9)
Shown in this order: most trials first. Lead sponsors the registry classes as industry, NIH, US federal, other government or network. A hospital or university the registry files as government can appear here. Sponsors it classes as academic or other are shown on the full page, because that class cannot separate an institution from a named investigator.
| Sponsor | Trials |
|---|---|
| Amicus Therapeutics | 24 |
| Genzyme, a Sanofi Company | 17 |
| Shire | 12 |
| National Institute of Neurological Disorders and Stroke (NINDS) | 11 |
| Chiesi Farmaceutici S.p.A. | 8 |
Showing 5 of 9 sponsors.
Which drugs are being tested for Fabry Disease? (8)
Shown in this order: most trials first. One row per drug, matched to a single molecule under all its names, ranked by number of trials.
| Drug | Trials |
|---|---|
| REPLAGAL | 20 |
| Migalastat | 20 |
| AGALSIDASE BETA (GZ419828) | 20 |
| Pegunigalsidase Alfa | 12 |
| Lucerastat | 5 |
Showing 5 of 8 drugs.
Interventions as named in the registry (7)
Shown in this order: most trials first.
| Drug | Trials |
|---|---|
| Enzyme Replacement Therapy (ERT) | 4 |
| MRI | 2 |
| EXG110 Injection | 2 |
| Blood Sampling | 2 |
| AT1001 150 mg | 1 |
Showing 5 of 7 interventions.
These are the names sponsors entered on ClinicalTrials.gov that we have not matched to a single molecule. Some are drugs under a brand or code name; others are procedures, doses or arm labels.
Which serious adverse events do Fabry Disease trials report? (10)
Shown in this order: most subjects affected first. Subjects affected summed across trials, a cross-trial signal, not a rate.
| Adverse event | Subjects affected | Trials |
|---|---|---|
| Atrial fibrillation | 32 | 12 |
| Chest pain | 23 | 6 |
| Pneumonia | 21 | 9 |
| Ventricular tachycardia | 19 | 8 |
| Cerebrovascular accident | 18 | 5 |
Showing 5 of 10 adverse events.
Which publications cover Fabry Disease? (244)
Shown in this order: major-topic papers first, then newest, then most linked to trials.
| Publication | Journal | Year | Major topic |
|---|---|---|---|
| Health State Utility Values in Fabry Disease: Insights from the Pegunigalsidase Alfa Clinical Trials. | Advances in therapy | 2025 | Yes |
| Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys. | Orphanet journal of rare diseases | 2025 | Yes |
| Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies. | European journal of pain (London, England) | 2025 | Yes |
| Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM). | Open heart | 2025 | Yes |
| Cardiac magnetic resonance imaging in the follow-up of patients with Fabry cardiomyopathy. | Diagnostic and interventional imaging | 2025 | Yes |
Showing 5 of 244 publications.
Prevalence (33)
Shown in this order: jurisdiction, then disease name. Orphanet observation for the mapped ORPHA concept; the mapping relation column says whether that concept is exactly this condition or broader or narrower.
| Orphanet disease | Type | Class | Geography | Jurisdiction | Mapping relation |
|---|---|---|---|---|---|
| Fabry disease | Point prevalence | 1-9 / 1 000 000 | United Kingdom | GB | Exact |
| Fabry disease | Point prevalence | 1-9 / 1 000 000 | United Kingdom | GB | Exact |
| Fabry disease | Point prevalence | 1-9 / 1 000 000 | United Kingdom | GB | Unspecified |
| Fabry disease | Prevalence at birth | 1-9 / 1 000 000 | Netherlands | Not stated | Exact |
| Fabry disease | Prevalence at birth | 1-9 / 1 000 000 | Netherlands | Not stated | Unspecified |
Showing 5 of 33 prevalence observations.
Rare-disease identity (2)
Shown in this order: exact, broader, narrower, other.
| Orphanet disease | ORPHA code | Relation | Source |
|---|---|---|---|
| Fabry disease | 324 | Exact | Orphadata Science knowledge files, Product 1 |
| Fabry disease | 324 | Exact | Orphanet Rare Disease Ontology (ORDO) |
Not on this page
Not measured: delivery record.
Checked, with nothing recorded for this condition: sub-conditions in mesh.