Disease · MONDO_0010526

Fabry disease

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Fabry disease. Diseases, record MONDO_0010526. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0010526

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: Fabry disease; Open Targets
Open Targets ID: MONDO_0010526; Open Targets
Other names: Alpha-galactosidase A deficiency, Anderson-Fabry disease, FD, Fabry syndrome, Fabry's disease, angiokeratoma corporis diffusum, diffuse angiokeratoma; Open Targets
Disease Ontology: DOID:14499; Disease Ontology
MeSH: D000795; MeSH
NCI Thesaurus: C84701; NCI Thesaurus
Orphanet: ORPHA:324; Orphanet
Highest stage of its drugs: Approval, for 5 of its 19 drugs, from ClinicalTrials.gov, DailyMed, EMA Human Drugs, FDA, PMDA and TTD; Open Targets

Drugs19

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
AGALSIDASE ALFA	CHEMBL2108214	Enzyme	Approval	EMA Human Drugs, PMDA and TTD	26	23	19	Drugs and targets
AGALSIDASE BETA	CHEMBL2108888	Enzyme	Approval	DailyMed, EMA Human Drugs, PMDA and TTD	24	20	20	Drugs and targets
PEGUNIGALSIDASE ALFA	CHEMBL4297801	Enzyme	Approval	ClinicalTrials.gov, EMA Human Drugs, FDA and TTD	18	14	14	Drugs and targets
MIGALASTAT HYDROCHLORIDE	CHEMBL2107355	Small molecule	Approval	DailyMed, FDA and PMDA	13	10	10	Drugs and targets
MIGALASTAT	CHEMBL110458	Small molecule	Approval	EMA Human Drugs and TTD	12	10	10	Drugs and targets
LUCERASTAT	CHEMBL1086997	Small molecule	Phase 3	ClinicalTrials.gov and TTD	6	4	4	Drugs and targets
VENGLUSTAT	CHEMBL4297611	Small molecule	Phase 3	ClinicalTrials.gov	6	4	4	Drugs and targets
AL-01211	CHEMBL6068534	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
DAPAGLIFLOZIN	CHEMBL429910	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
DUVALGAGENE OTIPARVOVEC	CHEMBL6068111	Gene	Phase 1/2	ClinicalTrials.gov and TTD	4	2	2	Drugs and targets

1 to 10 of 19

See all 19 drugs

Targets8

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
AGTR1	Type-1 angiotensin II receptor	5	Type-1 angiotensin II receptor antagonist	Unknown	https://conductscience.org/library/genes/185	Drugs and targets
GLA	Alpha-galactosidase A	2	Alpha-galactosidase A stabiliser	Approval	https://conductscience.org/library/genes/2717	Drugs and targets
UGCG	Ceramide glucosyltransferase	2	Ceramide glucosyltransferase inhibitor	Phase 3	https://conductscience.org/library/genes/7357	Drugs and targets
BRD2	Bromodomain and extra-terminal motif (BET)	1	Bromodomain and extra-terminal motif (BET) inhibitor	Phase 1/2	https://conductscience.org/library/genes/6046	Drugs and targets
BRD3	Bromodomain and extra-terminal motif (BET)	1	Bromodomain and extra-terminal motif (BET) inhibitor	Phase 1/2	https://conductscience.org/library/genes/8019	Drugs and targets
BRD4	Bromodomain and extra-terminal motif (BET)	1	Bromodomain and extra-terminal motif (BET) inhibitor	Phase 1/2	https://conductscience.org/library/genes/23476	Drugs and targets
BRDT	Bromodomain and extra-terminal motif (BET)	1	Bromodomain and extra-terminal motif (BET) inhibitor	Phase 1/2	https://conductscience.org/library/genes/676	Drugs and targets
SLC5A2	Sodium/glucose cotransporter 2	1	Sodium/glucose cotransporter 2 inhibitor	Phase 2	https://conductscience.org/library/genes/6524	Drugs and targets

Trials78

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 4 more are not shown, since the checks do not confirm them.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01298141	A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease	Phase 3	171	2019-02-15	Fabry Disease	AGALSIDASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT03425539	Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease	Phase 3	118	2024-08-09	Fabry Disease	LUCERASTAT	Its record names the disease	ClinicalTrials.gov
NCT01458119	Open-Label Phase 3 Long-Term Safety Study of Migalastat	Phase 3	85	2018-10-02	Fabry Disease	MIGALASTAT HYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT02194985	Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease	Phase 3	84	2020-12-21	Fabry Disease	MIGALASTAT, MIGALASTAT HYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT04281537	A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.		82	2024-11-04	Fabry Disease	AGALSIDASE ALFA, AGALSIDASE BETA	Its record names the disease	ClinicalTrials.gov
NCT02795676	Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function	Phase 3	78	2023-08-02	Fabry Disease	AGALSIDASE BETA, PEGUNIGALSIDASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT01218659	Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease	Phase 3	68	2018-11-01	Fabry Disease	MIGALASTAT	Its record names the disease	ClinicalTrials.gov
NCT00081497	A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease	Phase 4	67	2010-08-18	Fabry Disease	AGALSIDASE BETA	Its record names the disease	ClinicalTrials.gov
NCT00925301	Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease	Phase 3	67	2018-10-30	Fabry Disease	MIGALASTAT	Its record names the disease	ClinicalTrials.gov
NCT00864851	Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease	Phase 3	44	2014-06-06	Fabry Disease	AGALSIDASE ALFA	Its record names the disease	ClinicalTrials.gov

1 to 10 of 78

See all 78 trials

Comparisons in its trials11

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Lucerastat vs Placebo: deaths from any cause	0 of 80	0 of 37	117	NCT03425539	Trial comparisons
Lucerastat vs Placebo: serious adverse events	5 of 80	1 of 37	117	NCT03425539	Trial comparisons
PRX-102 (Pegunigalsidase Alfa) vs Agalsidase Beta: deaths from any cause	0 of 52	0 of 25	77	NCT02795676	Trial comparisons
PRX-102 (Pegunigalsidase Alfa) vs Agalsidase Beta: serious adverse events	8 of 52	6 of 25	77	NCT02795676	Trial comparisons
Lead-in Period (Fabrazyme) vs Treatment Period (AGA BETA BS): deaths from any cause	0 of 20	0 of 19	39	NCT05843916	Trial comparisons
Lead-in Period (Fabrazyme) vs Treatment Period (AGA BETA BS): serious adverse events	0 of 20	5 of 19	39	NCT05843916	Trial comparisons
Fabrazyme 0.5 mg/kg vs Fabrazyme 1.0 mg/kg: serious adverse events	6 of 16	5 of 15	31	NCT00701415	Trial comparisons
Safety Population RB vs Transition Safety Population: serious adverse events	2 of 17	2 of 11	28	NCT00084084	Trial comparisons
Pegunigalsidase Alfa Reporting Group vs Phenotypically Classic Fabry Patients: Gastrointestinal Symptoms Questionnaire - Severity of Abdominal Pain	10 of 16	7 of 10	26	NCT01678898	Trial comparisons
Pegunigalsidase Alfa Reporting Group vs Phenotypically Classic Fabry Patients: Gastrointestinal Symptoms Questionnaire - Frequency of Abdominal Pain	7 of 16	5 of 10	26	NCT01678898	Trial comparisons

1 to 10 of 11

See all 11 comparisons in its trials

Papers from its trials36

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
30834538	RESULT	1	PubMed
26252393	RESULT	1	PubMed
26185417	RESULT	1	PubMed
20730727	RESULT	1	PubMed
42879111	DERIVED	1	PubMed
41862950	DERIVED	1	PubMed
40790487	DERIVED	1	PubMed
40760696	DERIVED	1	PubMed
39847314	DERIVED	3	PubMed
37940383	DERIVED	1	PubMed

1 to 10 of 36

See all 36 papers from its trials

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0010526

GET https://conductscience.org/api/diseases/v1/MONDO_0010526/trials?page=2

API reference For AI assistants