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Showing 1–24 of 97 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Fabry Disease Clear all
Completed No phase listed Observational Accepts healthy volunteers

Fabry Screening Study

NCT01019629
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Baylor Research Institute
Other
Eligibility
18 Years and older
Enrollment
2,724 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2017
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Feb 12, 2018 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Phase 2 Interventional Results available

A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease

NCT00304512
View directory record Official record
Conditions
Fabry Disease
Interventions
migalastat HCl
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 65 Years · Female only
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
1
States / cities
Decatur, Georgia
Source: ClinicalTrials.gov public record
Updated Oct 2, 2018 · Synced Sep 5, 2026, 6:41 AM EDT
Not listed No phase listed Observational

Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy

NCT02994303
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
University of Washington
Other
Eligibility
1 Day to 90 Years
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
3
States / cities
Decatur, Georgia • Minneapolis, Minnesota • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 27, 2017 · Synced Sep 5, 2026, 6:41 AM EDT
Completed No phase listed Observational

Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity

NCT00106912
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
18 Years and older · Male only
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Phase 2 Interventional Results available

Safety Study of Replagal® Therapy in Children With Fabry Disease

NCT01363492
View directory record Official record
Conditions
Fabry Disease
Interventions
Replagal (agalsidase alfa)
Biological
Lead sponsor
Shire
Industry
Eligibility
7 Years to 17 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
5
States / cities
Decatur, Georgia • Durham, North Carolina • Dallas, Texas + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 8, 2021 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

NCT02985710
View directory record Official record
Conditions
Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
Interventions
Sudoscan, Skin biopsy, QSART
Device · Procedure
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
8 Years to 70 Years
Enrollment
102 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 6, 2021 · Synced Sep 5, 2026, 6:41 AM EDT
Completed No phase listed Observational

Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion

NCT05186324
View directory record Official record
Conditions
Fabry Disease
Interventions
Interview
Other
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
Not listed
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022
U.S. locations
7
States / cities
Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 20, 2023 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Phase 3 Interventional Results available

Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function

NCT02795676
View directory record Official record
Conditions
Fabry Disease
Interventions
PRX-102 (pegunigalsidase alfa), agalsidase beta
Biological
Lead sponsor
Protalix
Industry
Eligibility
18 Years to 60 Years
Enrollment
78 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
15
States / cities
Birmingham, Alabama • Phoenix, Arizona • Orange, California + 11 more
Source: ClinicalTrials.gov public record
Updated Sep 12, 2023 · Synced Sep 5, 2026, 6:41 AM EDT
Recruiting No phase listed Observational

Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study

NCT01581424
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
1 Year to 75 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2030
U.S. locations
2
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Sep 5, 2026, 6:41 AM EDT
Withdrawn No phase listed Observational

Evaluation of Phenotypic Variability in Fabry Disease

NCT03145779
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Year and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 2, 2020 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Phase 3 Interventional Results available

Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease

NCT00864851
View directory record Official record
Conditions
Fabry Disease
Interventions
Replagal
Biological
Lead sponsor
Shire
Industry
Eligibility
18 Years and older
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
4
States / cities
Tucson, Arizona • Iowa City, Iowa • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 8, 2021 · Synced Sep 5, 2026, 6:41 AM EDT
Recruiting No phase listed Observational

A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding

NCT04252066
View directory record Official record
Conditions
Fabry Disease
Interventions
migalastat
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
Female only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 7, 2025 · Synced Sep 5, 2026, 6:41 AM EDT
Active, not recruiting Phase 3 Interventional

A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease

NCT05206773
View directory record Official record
Conditions
Fabry Disease
Interventions
Venglustat (GZ402671), Placebo
Drug
Lead sponsor
Sanofi
Industry
Eligibility
16 Years and older
Enrollment
122 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
12
States / cities
Birmingham, Alabama • Los Angeles, California • Orange, California + 9 more
Source: ClinicalTrials.gov public record
Updated Feb 3, 2026 · Synced Sep 5, 2026, 6:41 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

NCT06065605
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Other
Eligibility
18 Years to 80 Years
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2025
U.S. locations
2
States / cities
Rockville, Maryland • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Oct 3, 2023 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Phase 4 Interventional Results available

A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

NCT00081497
View directory record Official record
Conditions
Fabry Disease
Interventions
agalsidase beta
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years and older
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2005
U.S. locations
18
States / cities
Birmingham, Alabama • Los Angeles, California • San Francisco, California + 15 more
Source: ClinicalTrials.gov public record
Updated Apr 1, 2015 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Phase 2 Interventional Results available

Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease

NCT02489344
View directory record Official record
Conditions
Fabry Disease
Interventions
GZ/SAR402671
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years and older · Male only
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
3
States / cities
Atlanta, Georgia • Cincinnati, Ohio • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Mar 22, 2021 · Synced Sep 5, 2026, 6:41 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

NCT05368038
View directory record Official record
Conditions
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis III-B, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Niemann-Pick Disease, Type C
Interventions
Confirmatory Testing
Diagnostic Test
Lead sponsor
Albert Einstein College of Medicine
Other
Eligibility
Up to 4 Weeks
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2029
U.S. locations
9
States / cities
Brooklyn, New York • Manhasset, New York • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 27, 2026 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Not applicable Interventional

A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children

NCT04002531
View directory record Official record
Conditions
Quality of Life, Renal Insufficiency, Cardiac Event
Interventions
General and Neurological examination, Vital signs, 12 lead electrocardiogram, Echocardiogram, Blood draw, Urine collection, 2-hour Holter Monitor, Brief Pain Inventory questionnaire, Quality of Life questionnaire
Other · Procedure
Lead sponsor
Baylor Research Institute
Other
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 3, 2026 · Synced Sep 5, 2026, 6:41 AM EDT
Terminated Phase 2 Interventional Results available

Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme

NCT00837824
View directory record Official record
Conditions
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Interventions
Fabrazyme (agalsidase beta)
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2003
U.S. locations
9
States / cities
Farmington, Connecticut • Coral Springs, Florida • Kansas City, Kansas + 6 more
Source: ClinicalTrials.gov public record
Updated Apr 6, 2015 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Not applicable Interventional Results available

Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

NCT02798458
View directory record Official record
Conditions
Fabry's Disease
Interventions
Smartpill, Endoscopic Mucosal Resection
Device · Procedure
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 70 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 26, 2023 · Synced Sep 5, 2026, 6:41 AM EDT
Recruiting Phase 1Phase 2 Interventional

A proof-of Concept Study to Assess Safety and Tolerability of HM15421/GC1134A in Patients With Fabry Disease

NCT06858397
View directory record Official record
Conditions
Fabry Disesase
Interventions
HM15421/GC1134A
Drug
Lead sponsor
GC Biopharma Corp
Industry
Eligibility
18 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
6
States / cities
Los Angeles, California • Kansas City, Kansas • Minneapolis, Minnesota + 3 more
Source: ClinicalTrials.gov public record
Updated Nov 3, 2025 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Migalastat Food Effect Study

NCT01489995
View directory record Official record
Conditions
Fabry Disease
Interventions
A (migalastat), B (migalastat), C (migalastat), D (migalastat), E (migalastat)
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 65 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Dec 17, 2013 · Synced Sep 5, 2026, 6:41 AM EDT
Completed Phase 3 Interventional Results available

Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks

NCT03180840
View directory record Official record
Conditions
Fabry Disease
Interventions
Pegunigalsidase alfa
Biological
Lead sponsor
Protalix
Industry
Eligibility
18 Years to 60 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
7
States / cities
Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 12, 2023 · Synced Sep 5, 2026, 6:41 AM EDT