Independent directory Public ClinicalTrials.gov records United States
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ClinicalTrials.gov public records Last synced Jul 24, 2026, 7:18 AM EDT

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Showing 1–24 of 317 matching trials from the live ClinicalTrials.gov search.
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Conditions
GM2 Gangliosidoses, Tay-Sachs, Sandhoff Disease
Interventions
Zavesca (Miglustat)
Drug
Lead sponsor
Children's National Research Institute
Other
Eligibility
6 Months to 5 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Washington D.C., District of Columbia
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
Conditions
Lysosomal Storage Disease, Peroxisomal Disorder
Interventions
Campath-1H, Clofarabine, Melphalan, Total Body Irradiation with Marrow Boosting, Hematopoietic stem cell transplantation, Cyclosporine A, Mycophenolate mofetil
Drug · Radiation · Biological
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
Minneapolis, Minnesota
Conditions
Sjögren-Larsson Syndrome
Interventions
Active topical NS2 1% dermatologic cream, Vehicle placebo 0.0% NS2 dermatologic cream
Drug
Lead sponsor
Aldeyra Therapeutics, Inc.
Industry
Eligibility
6 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
3
States / cities
Omaha, Nebraska • Hershey, Pennsylvania • Fairfax, Virginia
Conditions
Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis
Interventions
AAV2CUhCLN2 (3x10^12 particle units)
Biological
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
3 Years to 18 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2019
U.S. locations
1
States / cities
New York, New York
Conditions
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Interventions
enzyme analysis
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Completed No phase listed Observational Accepts healthy volunteers

PET Scans in Normal Volunteers and Patients With Fabry Disease

NCT00005111
Conditions
Fabry Disease, Healthy
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Male only
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
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
Conditions
Fabry Disease
Interventions
AMT-191
Drug
Lead sponsor
UniQure Biopharma B.V.
Industry
Eligibility
18 Years to 50 Years · Male only
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2031
U.S. locations
8
States / cities
Birmingham, Alabama • Atlanta, Georgia • Chicago, Illinois + 5 more
Conditions
Niemann-Pick Diseases
Interventions
Not listed
Lead sponsor
National Niemann-Pick Disease Foundation
Other
Eligibility
18 Years and older
Enrollment
76 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020
U.S. locations
1
States / cities
New York, New York
Conditions
Gaucher Disease
Interventions
Standard of Care
Other
Lead sponsor
Takeda
Industry
Eligibility
Up to 5 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Conditions
Gaucher Disease, Type 1
Interventions
Not listed
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years to 65 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
New York, New York
Conditions
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3, Neuronal Ceroid Lipofuscinosis CLN5, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN7, Neuronal Ceroid Lipofuscinosis CLN8, Neuronal Ceroid Lipofuscinosis CLN10, Batten Disease
Interventions
Not listed
Lead sponsor
University of Rochester
Other
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2035
U.S. locations
1
States / cities
Rochester, New York
Conditions
Fabry Disease
Interventions
Fabrazyme (agalsidase beta)
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
7 Years to 15 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2005
U.S. locations
1
States / cities
Tucson, Arizona
Conditions
Hurler Syndrome, Inherited Metabolic Disorder, Lysosomal Storage Disorder, Metachromatic Leukodystrophy, Inborn Errors of Metabolism
Interventions
rivogenlecleucel, rimiducid
Biological · Drug
Lead sponsor
Bellicum Pharmaceuticals
Industry
Eligibility
3 Months to 21 Years
U.S. locations
2
States / cities
Los Angeles, California • Palo Alto, California
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
Conditions
Fabry Disease
Interventions
migalastat HCl
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 55 Years · Male only
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
5
States / cities
Los Angeles, California • Decatur, Georgia • Bethesda, Maryland + 2 more
Conditions
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
Interventions
PBGM01
Biological
Lead sponsor
Gemma Biotherapeutics
Industry
Eligibility
1 Month to 24 Months
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
4
States / cities
Oakland, California • Minneapolis, Minnesota • New Brunswick, New Jersey + 1 more
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
Conditions
Lysosomal Acid Lipase Deficiency
Interventions
There is no intervention in the study
Other
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 16 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
2
States / cities
Atlanta, Georgia • Houston, Texas
Conditions
Gaucher Disease, Type 2
Interventions
LY3884961, Methylprednisolone, Sirolimus, Prednisone
Genetic · Drug
Lead sponsor
Prevail Therapeutics
Industry
Eligibility
0 Months to 24 Months
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2028
U.S. locations
4
States / cities
Oakland, California • Minneapolis, Minnesota • Pittsburgh, Pennsylvania + 1 more
Recruiting No phase listed Observational Accepts healthy volunteers

Drug Discovery for Parkinson's With Mutations in the GBA Gene

NCT05536388
Conditions
Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
Interventions
Biological Sample Collection
Other
Lead sponsor
New York Stem Cell Foundation Research Institute
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2025
U.S. locations
1
States / cities
New York, New York
Conditions
Lysosomal Storage Diseases, Inborn Errors of Metabolism
Interventions
ALD-601
Biological
Lead sponsor
Joanne Kurtzberg, MD
Other
Eligibility
18 Years and older · Female only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2017
U.S. locations
2
States / cities
Durham, North Carolina