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ClinicalTrials.gov public records Last synced May 22, 2026, 12:51 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 1–24 of 187 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Rare Genetic Disease Clear all
Terminated Phase 3 Interventional Accepts healthy volunteers Results available
View directory record Official record
Conditions
Tay-Sachs Disease, Sandhoff Disease
Interventions
venglustat GZ402671, placebo
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
2 Years and older
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
5
States / cities
Los Angeles, California • Atlanta, Georgia • Bethesda, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Jan 27, 2026 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis, Creutzfeld-Jakob Disease, Cystic Fibrosis, Duchenne Muscular Dystrophy, Early-Onset Alzheimer Disease, Ehlers-Danlos Syndrome, Huntington Disease, Gaucher Disease, GM1 Gangliosidosis, Myasthenia Gravis, Pompe Disease, Sickle Cell Disease, Transthyretin Amyloid Cardiomyopathy, Rare Diseases
Interventions
Not listed
Lead sponsor
xCures
Industry
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Los Altos, California
Source: ClinicalTrials.gov public record
Updated Nov 13, 2024 · Synced May 22, 2026, 12:51 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Choroideremia
Interventions
No Intervention
Other
Lead sponsor
Biogen
Industry
Eligibility
10 Years and older
Enrollment
1,178 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Sep 7, 2021 · Synced May 22, 2026, 12:51 AM EDT
Completed Phase 4 Interventional
View directory record Official record
Conditions
Wilson Disease
Interventions
zinc acetate
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1993
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
PI3KCD, CTLA4, STAT3GOF, MAGT1
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Years to 99 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2026
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 23, 2026 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy, Best Disease, Aniridia, Albinism
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2054
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 3, 2026 · Synced May 22, 2026, 12:51 AM EDT
Completed Not applicable Interventional
View directory record Official record
Conditions
Sickle Cell Anemia
Interventions
clotrimazole, hydroxyurea
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2002
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 24, 2015 · Synced May 22, 2026, 12:51 AM EDT
Completed Phase 1Phase 2 Interventional
View directory record Official record
Conditions
Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
Interventions
AAVrh.10CUCLN2
Biological
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
3 Years to 18 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2017
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 30, 2020 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
8
States / cities
Birmingham, Alabama • Jacksonville, Florida • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 5, 2025 · Synced May 22, 2026, 12:51 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Genetic Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
157 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2004
U.S. locations
2
States / cities
Bethesda, Maryland • Strasburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 30, 2026 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease, Development, Infant, Development, Child
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Up to 4 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 20, 2024 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Chronic Kidney Disease, Dialysis, Kidney Transplant
Interventions
Observational study - registry
Other
Lead sponsor
Tufts Medical Center
Other
Eligibility
18 Years to 120 Years
Enrollment
50,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2070
U.S. locations
1
States / cities
Danville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 12, 2025 · Synced May 22, 2026, 12:51 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Cystinosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
La Jolla, California
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 22, 2026, 12:51 AM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Stenosis, Histiocytoma
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years to 90 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2000
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 22, 2026, 12:51 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Hyperaldosteronism
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 22, 2026, 12:51 AM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
Conditions
Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
Interventions
Setmelanotide
Drug
Lead sponsor
Rhythm Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 5 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
3
States / cities
Aurora, Colorado • New York, New York • Marshfield, Wisconsin
Source: ClinicalTrials.gov public record
Updated Nov 26, 2024 · Synced May 22, 2026, 12:51 AM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
Not listed
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1978
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Jul 9, 2008 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Pyruvate Dehydrogenase Complex Deficiency Disease
Interventions
No intervention
Other
Lead sponsor
University of Pittsburgh
Other
Eligibility
Not listed
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2026
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced May 22, 2026, 12:51 AM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
FTLD, Progressive Supranuclear Palsy (PSP), Frontotemporal Dementia (FTD), Corticobasal Degeneration (CBD), PPA Syndrome, Behavioral Variant Frontotemporal Dementia (bvFTD), Semantic Variant Primary Progressive Aphasia (svPPA), Nonfluent Variant Primary Progressive Aphasia (nfvPPA), FTD With Amyotrophic Lateral Sclerosis (FTD/ALS), Amyotrophic Lateral Sclerosis (ALS), Oligosymptomatic PSP (oPSP), Corticobasal Syndrome (CBS)
Interventions
Not listed
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 85 Years
Enrollment
1,489 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2020
U.S. locations
15
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 12 more
Source: ClinicalTrials.gov public record
Updated May 20, 2021 · Synced May 22, 2026, 12:51 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Usher Syndrome, Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1999
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
MLD, Krabbe Disease, ALD, MPS I, MPS II, MPS III, Vanishing White Matter Disease, GM3 Gangliosidosis, PKAN, Tay-Sachs Disease, NP Deficiency, Osteopetrosis, Alpha-Mannosidosis, Sandhoff Disease, Niemann-Pick Diseases, MPS IV, Gaucher Disease, GAN, GM1 Gangliosidoses, Morquio Disease, S-Adenosylhomocysteine Hydrolase Deficiency, Batten Disease, Pelizaeus-Merzbacher Disease, Leukodystrophy, Lysosomal Storage Diseases, Purine Nucleoside Phosphorylase Deficiency, Multiple Sulfatase Deficiency Disease
Interventions
Palliative Care, Hematopoetic Stem Cell Transplantation
Other · Biological
Lead sponsor
University of Pittsburgh
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2035
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 8, 2026 · Synced May 22, 2026, 12:51 AM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Intellectual Disabilities, Congenital Anomaly, Rare Disorders
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
4 Weeks to 99 Years
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 4, 2026 · Synced May 22, 2026, 12:51 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers
View directory record Official record
Conditions
Rare Diseases
Interventions
Rapid whole genome sequencing
Genetic
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Day to 90 Days
Enrollment
410 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jan 26, 2026 · Synced May 22, 2026, 12:51 AM EDT
Terminated Phase 1Phase 2 Interventional Results available
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia (HoFH)
Interventions
AAV directed hLDLR gene therapy
Genetic
Lead sponsor
REGENXBIO Inc.
Industry
Eligibility
18 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
5
States / cities
Boca Raton, Florida • Kansas City, Kansas • Portland, Oregon + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 12, 2023 · Synced May 22, 2026, 12:51 AM EDT