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ClinicalTrials.gov public records Last synced Oct 5, 2026, 12:07 AM EDT

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Showing 49–72 of 189 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Rare Genetic Disease Clear all
Completed Phase 1Phase 2 Interventional Results available

Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)

NCT04046224
View directory record Official record
Conditions
Fabry Disease
Interventions
ST-920
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
9
States / cities
Irvine, California • Tampa, Florida • Atlanta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Apr 14, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Completed Phase 1Phase 2 Interventional

AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis

NCT01414985
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 31, 2020 · Synced Oct 5, 2026, 12:07 AM EDT
Terminated Phase 1Phase 2 Interventional Results available

A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)

NCT02651675
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 13, 2023 · Synced Oct 5, 2026, 12:07 AM EDT
Completed No phase listed Observational

Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

NCT04148001
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia (HoFH)
Interventions
Not listed
Lead sponsor
REGENXBIO Inc.
Industry
Eligibility
18 Years and older
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Boca Raton, Florida
Source: ClinicalTrials.gov public record
Updated Feb 2, 2021 · Synced Oct 5, 2026, 12:07 AM EDT
Recruiting No phase listed Observational

Rare Kidney Stone Consortium Biobank

NCT02026388
View directory record Official record
Conditions
Primary Hyperoxaluria, Dent Disease, APRT Deficiency, Cystinuria
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2030
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Completed Phase 2 Interventional Results available

Study of High-Dose Chemotherapy With Bone Marrow or Stem Cell Transplant for Rare Poor-Prognosis Cancers

NCT00141765
View directory record Official record
Conditions
Wilms Tumor, Fibrosarcoma, Carcinoma, Round Cell, Nasopharyngeal Cancer, Brain Tumor, Recurrent
Interventions
Myeloablative Chemotherapy, Stem Cell Rescue
Procedure
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
Up to 21 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2010
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jun 20, 2014 · Synced Oct 5, 2026, 12:07 AM EDT
Suspended Phase 1Phase 2 Interventional

Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease

NCT04771416
View directory record Official record
Conditions
Leukodystrophy, Globoid Cell
Interventions
PBKR03
Biological
Lead sponsor
Gemma Biotherapeutics
Industry
Eligibility
1 Month to 9 Months
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2030
U.S. locations
4
States / cities
Chicago, Illinois • New York, New York • Philadelphia, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors

NCT02867592
View directory record Official record
Conditions
Adrenal Cortical Carcinoma, Alveolar Soft Part Sarcoma, Central Nervous System Neoplasm, Childhood Clear Cell Sarcoma of Soft Tissue, Clear Cell Sarcoma of Soft Tissue, Ewing Sarcoma, Hepatoblastoma, Hepatocellular Carcinoma, Osteosarcoma, Recurrent Adrenal Cortical Carcinoma, Recurrent Alveolar Soft Part Sarcoma, Recurrent Clear Cell Sarcoma of Soft Tissue, Recurrent Ewing Sarcoma, Recurrent Hepatoblastoma, Recurrent Hepatocellular Carcinoma, Recurrent Kidney Wilms Tumor, Recurrent Malignant Solid Neoplasm, Recurrent Osteosarcoma, Recurrent Primary Malignant Central Nervous System Neoplasm, Recurrent Renal Cell Carcinoma, Recurrent Rhabdomyosarcoma, Recurrent Soft Tissue Sarcoma, Recurrent Thyroid Gland Medullary Carcinoma, Refractory Adrenal Cortical Carcinoma, Refractory Alveolar Soft Part Sarcoma, Refractory Clear Cell Sarcoma of Soft Tissue, Refractory Ewing Sarcoma, Refractory Hepatoblastoma, Refractory Hepatocellular Carcinoma, Refractory Malignant Solid Neoplasm, Refractory Osteosarcoma, Refractory Primary Central Nervous System Neoplasm, Refractory Primary Malignant Central Nervous System Neoplasm, Refractory Renal Cell Carcinoma, Refractory Rhabdomyosarcoma, Refractory Soft Tissue Sarcoma, Refractory Thyroid Gland Medullary Carcinoma, Refractory Wilms Tumor, Renal Cell Carcinoma, Rhabdomyosarcoma, Soft Tissue Sarcoma, Solid Neoplasm, Thyroid Gland Medullary Carcinoma, Wilms Tumor
Interventions
Cabozantinib, Cabozantinib S-malate, Pharmacological Study
Drug · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years to 30 Years
Enrollment
109 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
142
States / cities
Birmingham, Alabama • Anchorage, Alaska • Little Rock, Arkansas + 104 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Not listed No phase listed Observational

Cure Cystinosis International Registry

NCT01327807
View directory record Official record
Conditions
Cystinosis, Nephropathic Cystinosis, Renal Fanconi Syndrome
Interventions
Not listed
Lead sponsor
Cystinosis Research Foundation
Other
Eligibility
Not listed
Enrollment
750 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2022
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 12, 2014 · Synced Oct 5, 2026, 12:07 AM EDT
Completed Phase 1Phase 2 Interventional

Phase I/II Randomized Study of Hydroxyurea With or Without Clotrimazole in Patients With Sickle Cell Anemia

NCT00004492
View directory record Official record
Conditions
Sickle Cell Anemia
Interventions
clotrimazole, hydroxyurea
Drug
Lead sponsor
University of North Carolina
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2001
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 5, 2026, 12:07 AM EDT
Completed No phase listed Observational

23andMe IPF Research Study

NCT05028894
View directory record Official record
Conditions
Idiopathic Pulmonary Fibrosis
Interventions
No intervention
Other
Lead sponsor
23andMe, Inc.
Industry
Eligibility
18 Years and older
Enrollment
690 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Sunnyvale, California
Source: ClinicalTrials.gov public record
Updated Dec 9, 2024 · Synced Oct 5, 2026, 12:07 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Vascular Disease Discovery Protocol

NCT03538639
View directory record Official record
Conditions
Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
2 Years to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2037
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 18, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Recruiting No phase listed Observational

Genome Medical Sequencing for Gene Discovery

NCT01087320
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 Oct 2, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis

NCT00872729
View directory record Official record
Conditions
Cystinosis
Interventions
Cystagon®, RP103
Drug
Lead sponsor
Amgen
Industry
Eligibility
Not listed
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Dec 19, 2024 · Synced Oct 5, 2026, 12:07 AM EDT
Not listed No phase listed Observational

Genetic Study of Insulin-Like Growth Factor-I Receptor Mutations in Patients With Intrauterine Growth Retardation

NCT00005105
View directory record Official record
Conditions
Intrauterine Growth Retardation
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Months to 18 Years
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
5
States / cities
Atlanta, Georgia • Indianapolis, Indiana • New Hyde Park, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 5, 2026, 12:07 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)

NCT04998396
View directory record Official record
Conditions
Canavan Disease
Interventions
AAV9 BBP-812
Biological
Lead sponsor
Aspa Therapeutics
Industry
Eligibility
Up to 30 Months
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2032
U.S. locations
4
States / cities
Oakland, California • Chicago, Illinois • Boston, Massachusetts + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 17, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Completed No phase listed Observational

Genetic Studies in the Amish and Mennonites

NCT00359580
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
2004 – 2014
U.S. locations
2
States / cities
Bethesda, Maryland • Strasburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 3, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Recruiting No phase listed Observational

Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.

NCT01998750
View directory record Official record
Conditions
Obesity
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Up to 80 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2030
U.S. locations
2
States / cities
Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Oct 21, 2025 · Synced Oct 5, 2026, 12:07 AM EDT
Completed Phase 3 Interventional Results available

Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis

NCT01733316
View directory record Official record
Conditions
Cystinosis
Interventions
RP103, Cystagon®
Drug
Lead sponsor
Amgen
Industry
Eligibility
12 Years and older
Enrollment
41 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
5
States / cities
San Francisco, California • Stanford, California • Atlanta, Georgia + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 27, 2024 · Synced Oct 5, 2026, 12:07 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial

NCT05361811
View directory record Official record
Conditions
Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome
Interventions
Waitlist, ACT Intervention
Behavioral
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 24, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Not listed No phase listed Observational

FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

NCT06539169
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 14, 2024 · Synced Oct 5, 2026, 12:07 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis

NCT00006393
View directory record Official record
Conditions
Systemic Sclerosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
80 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1998
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 5, 2026, 12:07 AM EDT
Recruiting No phase listed Observational

Rare Kidney Stone Consortium Patient Registry

NCT00588562
View directory record Official record
Conditions
Primary Hyperoxaluria, Dent Disease, Cystinuria, APRT Deficiency
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
0 Years to 100 Years
Enrollment
730 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2028
U.S. locations
3
States / cities
Rochester, Minnesota • New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 5, 2026, 12:07 AM EDT
Completed Not applicable Interventional

Study of NTBC for Tyrosinemia I

NCT00004443
View directory record Official record
Conditions
Tyrosinemia I
Interventions
NTBC
Drug
Lead sponsor
University of Washington
Other
Eligibility
Up to 17 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2006
U.S. locations
2
States / cities
Portland, Oregon • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 5, 2026, 12:07 AM EDT