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ClinicalTrials.gov public records Last synced Oct 20, 2026, 5:04 PM EDT

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Showing 25–48 of 97 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Fabry Disease Clear all
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 28, 2026 · Synced Oct 20, 2026, 5:04 PM EDT
Completed No phase listed Observational Results available

A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.

NCT04281537
View directory record Official record
Conditions
Fabry Disease
Interventions
Enzyme Replacement Therapy (ERT)
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
82 participants
Timeline
2020 – 2022
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Oct 20, 2026, 5:04 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Screening of Lysosomal Storage Disorders Diseases in Minority Groups

NCT03812042
View directory record Official record
Conditions
Lysosomal Storage Diseases
Interventions
Enzyme assay and molecular sequencing
Diagnostic Test
Lead sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jan 22, 2019 · Synced Oct 20, 2026, 5:04 PM EDT
Completed Phase 1 Interventional

An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease

NCT00357786
View directory record Official record
Conditions
Fabry Disease
Interventions
Replagal agalsidase alfa, Replagal
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
39 Years to 45 Years · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 17, 2011 · Synced Oct 20, 2026, 5:04 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

NCT02000310
View directory record Official record
Conditions
Lysosomal Storage Disorders
Interventions
Not listed
Lead sponsor
O & O Alpan LLC
Other
Eligibility
1 Day to 100 Years
Enrollment
80 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2022
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Feb 23, 2021 · Synced Oct 20, 2026, 5:04 PM EDT
Completed No phase listed Observational

The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study

NCT00446862
View directory record Official record
Conditions
Fabry Disease, Proteinuria
Interventions
enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockers
Drug
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
19 Years to 85 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
5
States / cities
Birmingham, Alabama • Atlanta, Georgia • Chicago, Illinois + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 19, 2013 · Synced Oct 20, 2026, 5:04 PM EDT
Not listed No phase listed Observational

Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease

NCT01304875
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
8 Years to 18 Years · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2010
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jun 27, 2013 · Synced Oct 20, 2026, 5:04 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Androgenetic Alopecia in Fabry Disease

NCT01295008
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
Baylor Research Institute
Other
Eligibility
18 Years to 64 Years · Male only
Enrollment
107 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2015
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jan 13, 2016 · Synced Oct 20, 2026, 5:04 PM EDT
Terminated Phase 4 Interventional Results available

Study of the Effects of Fabrazyme Treatment on Lactation and Infants

NCT00230607
View directory record Official record
Conditions
Fabry Disease, Alpha Galactosidase A Deficiency
Interventions
agalsidase beta
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2024
U.S. locations
3
States / cities
Decatur, Georgia • Fairfax, Virginia • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 10, 2024 · Synced Oct 20, 2026, 5:04 PM EDT
Completed Phase 3 Interventional Results available

Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease

NCT00925301
View directory record Official record
Conditions
Fabry Disease
Interventions
migalastat hydrochloride, Placebo
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
16 Years to 74 Years
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2014
U.S. locations
13
States / cities
Los Angeles, California • San Francisco, California • Decatur, Georgia + 10 more
Source: ClinicalTrials.gov public record
Updated Oct 30, 2018 · Synced Oct 20, 2026, 5:04 PM EDT
Terminated Phase 1Phase 2 Interventional Results available

A Fabry Disease Gene Therapy Study

NCT04040049
View directory record Official record
Conditions
Fabry Disease, Lysosomal Storage Diseases
Interventions
FLT190
Genetic
Lead sponsor
Spur Therapeutics
Industry
Eligibility
18 Years and older · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
4
States / cities
Los Angeles, California • New York, New York • Pittsburgh, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 20, 2026, 5:04 PM EDT
Completed No phase listed Observational

Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients

NCT04804566
View directory record Official record
Conditions
Fabry Disease
Interventions
This is a non-interventional study
Other
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023
U.S. locations
1
States / cities
Eagan, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 3, 2024 · Synced Oct 20, 2026, 5:04 PM EDT
Terminated No phase listed Observational

Kidney Information Network for Disease Research and Education

NCT03321604
View directory record Official record
Conditions
ESRD, Fabry Disease, Rare Diseases, Kidney Diseases, End Stage Renal Disease, Genetic Diseases, X-Linked
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 65 Years
Enrollment
338 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 24, 2021 · Synced Oct 20, 2026, 5:04 PM EDT
Completed No phase listed Observational

Antiproteinuric Agents and Fabry Disease

NCT00343577
View directory record Official record
Conditions
Fabry Disease, Proteinuria
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
14 Years to 95 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2006
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Nov 19, 2013 · Synced Oct 20, 2026, 5:04 PM EDT
Completed No phase listed Observational

Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta

NCT01745185
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
O & O Alpan LLC
Other
Eligibility
7 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Apr 4, 2017 · Synced Oct 20, 2026, 5:04 PM 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 8, 2025 · Synced Oct 20, 2026, 5:04 PM EDT
Completed Phase 2 Interventional Results available

Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease

NCT02228460
View directory record Official record
Conditions
Fabry Disease
Interventions
GZ/SAR402671
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years to 49 Years · Male only
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
3
States / cities
Atlanta, Georgia • Cincinnati, Ohio • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 20, 2026, 5:04 PM EDT
Completed Phase 2 Interventional

Alternative Dosing and Regimen of Replagal to Treat Fabry Disease

NCT00075244
View directory record Official record
Conditions
Fabry Disease
Interventions
Replagal
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Male only
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2005
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 20, 2026, 5:04 PM EDT
Recruiting Phase 3 Interventional

A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants

NCT06904261
View directory record Official record
Conditions
Fabry Disease
Interventions
Migalastat HCl 20 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
2 Years to 11 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
6
States / cities
Atlanta, Georgia • Minneapolis, Minnesota • Charlotte, North Carolina + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 1, 2026 · Synced Oct 20, 2026, 5:04 PM 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 28, 2017 · Synced Oct 20, 2026, 5:04 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease

NCT04519749
View directory record Official record
Conditions
Fabry Disease
Interventions
4D-310
Biological
Lead sponsor
4D Molecular Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
4
States / cities
La Jolla, California • Atlanta, Georgia • Pittsburgh, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 8, 2024 · Synced Oct 20, 2026, 5:04 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease

NCT03678324
View directory record Official record
Conditions
Fabry Disease
Interventions
Functional MRI and fast bound-pool fraction imaging
Other
Lead sponsor
University of Utah
Other
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated May 26, 2022 · Synced Oct 20, 2026, 5:04 PM EDT
Completed Phase 2 Interventional

An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease

NCT00071877
View directory record Official record
Conditions
Fabry Disease
Interventions
Replagal
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2005
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 20, 2026, 5:04 PM EDT
Completed Phase 4 Interventional Results available

A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta

NCT01650779
View directory record Official record
Conditions
Fabry Disease
Interventions
Agalsidase beta
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
6
States / cities
Coral Springs, Florida • Decatur, Georgia • Baltimore, Maryland + 3 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2014 · Synced Oct 20, 2026, 5:04 PM EDT