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ClinicalTrials.gov public records Last synced Oct 20, 2026, 3:16 AM EDT

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

Showing 97–120 of 8,004 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Active, not recruiting No phase listed Observational

LGMD R1 Natural History Study

NCT05618080
View directory record Official record
Conditions
Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy Type R1, LGMD2A
Interventions
Not listed
Lead sponsor
Virginia Commonwealth University
Other
Eligibility
12 Years to 50 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
9
States / cities
Orange, California • Aurora, Colorado • Gainesville, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Oct 20, 2026, 3:16 AM EDT
Completed No phase listed Observational Results available

A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies

NCT01977846
View directory record Official record
Conditions
Stargardt Disease
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
6 Years and older
Enrollment
259 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
6
States / cities
Baltimore, Maryland • Cleveland, Ohio • Philadelphia, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 1, 2019 · Synced Oct 20, 2026, 3:16 AM EDT
Withdrawn No phase listed Observational Accepts healthy volunteers

Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia

NCT06560346
View directory record Official record
Conditions
Friedreich Ataxia, Rare Diseases
Interventions
Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
Other
Lead sponsor
Friedreich's Ataxia Research Alliance
Other
Eligibility
4 Years to 21 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
3
States / cities
Iowa City, Iowa • Philadelphia, Pennsylvania • Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 8, 2025 · Synced Oct 20, 2026, 3:16 AM EDT
Completed No phase listed Observational

Pregnancy in Osteogenesis Imperfecta (OI) Registry

NCT03072303
View directory record Official record
Conditions
Osteogenesis Imperfecta, Brittle Bone Disorders
Interventions
Web-based Survey
Other
Lead sponsor
University of South Florida
Other
Eligibility
Female only
Enrollment
170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Oct 16, 2019 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Phase 3 Interventional Results available

A Study of Lebrikizumab (LY3650150) in Adult and Adolescent Participants With Moderate-to-Severe Atopic Dermatitis Previously Treated With Dupilumab

NCT05369403
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Lebrikizumab
Drug
Lead sponsor
Eli Lilly and Company
Industry
Eligibility
12 Years and older
Enrollment
86 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
37
States / cities
Montgomery, Alabama • Phoenix, Arizona • Fountain Valley, California + 31 more
Source: ClinicalTrials.gov public record
Updated Feb 25, 2026 · Synced Oct 20, 2026, 3:16 AM EDT
Not yet recruiting Phase 1 Interventional

Escalating Doses of Memantine in Down Syndrome (MEDS-123)

NCT07531940
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability, Alzheimer Dementia (AD)
Interventions
Memantine
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
18 Years to 32 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 20, 2026, 3:16 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

NCT02413450
View directory record Official record
Conditions
Inherited Cardiac Arrythmias, Long QT Syndrome (LQTS), Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Early Repolarization Syndrome (ERS), Arrhythmogenic Cardiomyopathy (AC, ARVD/C), Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Normal Control Subjects
Interventions
Not listed
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 85 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2031
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 16, 2026 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Phase 2 Interventional Results available

Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer

NCT02961374
View directory record Official record
Conditions
Attenuated Familial Adenomatous Polyposis, Familial Adenomatous Polyposis
Interventions
Erlotinib, Erlotinib Hydrochloride
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 69 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
7
States / cities
Scottsdale, Arizona • Ann Arbor, Michigan • Rochester, Minnesota + 4 more
Source: ClinicalTrials.gov public record
Updated Jul 26, 2022 · Synced Oct 20, 2026, 3:16 AM EDT
Completed No phase listed Observational

A Study of Pentosan Polysulfate Sodium and the Development of Pigmentary Maculopathy and Pigmentary Retinopathy

NCT05179460
View directory record Official record
Conditions
Pigmentary Maculopathy, Pigmentary Retinopathy, Interstitial Cystitis
Interventions
Not listed
Lead sponsor
Janssen Research & Development, LLC
Industry
Eligibility
18 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Titusville, New Jersey
Source: ClinicalTrials.gov public record
Updated Jun 26, 2025 · Synced Oct 20, 2026, 3:16 AM EDT
Completed No phase listed Observational

A Pre-Cellular Therapy Observational Study in Early Huntington's Disease

NCT01937923
View directory record Official record
Conditions
Huntington Disease
Interventions
Not listed
Lead sponsor
University of California, Davis
Other
Eligibility
18 Years and older
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Nov 1, 2016 · Synced Oct 20, 2026, 3:16 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping

NCT05524883
View directory record Official record
Conditions
Duchenne Muscular Dystrophy (DMD)
Interventions
DYNE-251, Placebo
Drug
Lead sponsor
Dyne Therapeutics
Industry
Eligibility
4 Years to 16 Years · Male only
Enrollment
86 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2031
U.S. locations
11
States / cities
La Jolla, California • Los Angeles, California • Aurora, Colorado + 8 more
Source: ClinicalTrials.gov public record
Updated Aug 11, 2026 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Phase 1Phase 2 Interventional Results available

A First in Human Study of RT001 in Patients With Friedreich's Ataxia

NCT02445794
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
Low dose cohort, High dose cohort
Drug
Lead sponsor
Biojiva LLC
Industry
Eligibility
18 Years to 50 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
2
States / cities
Long Beach, California • Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Nov 27, 2020 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Not applicable Interventional Results available

Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer

NCT00450424
View directory record Official record
Conditions
Colorectal Cancer, Hereditary Non-polyposis Colon Cancer
Interventions
counseling intervention, CD-ROM intervention
Other
Lead sponsor
Fox Chase Cancer Center
Other
Eligibility
21 Years and older
Enrollment
239 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2011
U.S. locations
3
States / cities
Newark, Delaware • Boston, Massachusetts • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 5, 2014 · Synced Oct 20, 2026, 3:16 AM EDT
Completed No phase listed Observational

Tissue Expansion in Breast Reconstruction Without Drains

NCT03784859
View directory record Official record
Conditions
Breast Cancer, Hereditary Breast and Ovarian Cancer Syndrome, Breast Implant; Complications
Interventions
Insertion of Tissue Expander with Fluid Reservoir
Device
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
21 Years and older · Female only
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Oct 6, 2020 · Synced Oct 20, 2026, 3:16 AM EDT
Terminated Phase 2 Interventional Results available

Proof of Concept Study to Assess Activity and Safety of SMT C1100 (Ezutromid) in Boys With Duchenne Muscular Dystrophy (DMD)

NCT02858362
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Ezutromid
Drug
Lead sponsor
Summit Therapeutics
Industry
Eligibility
5 Years and older · Male only
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
9
States / cities
Los Angeles, California • Aurora, Colorado • Orlando, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Jan 2, 2020 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Not applicable Interventional

Delivering Transcutaneous Auricular Neurostimulation to Reduce Heavy Menstrual Bleeding in Patients With and Without Von Willebrand Disease

NCT06064851
View directory record Official record
Conditions
Von Willebrand Disease, Type 1, Heavy Menstrual Bleeding
Interventions
Volta System
Device
Lead sponsor
Five Liters, Inc.
Industry
Eligibility
18 Years to 45 Years · Female only
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Apr 27, 2025 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Phase 3 Interventional Results available

OASIS-HAE: A Study to Evaluate the Safety and Efficacy of Donidalorsen (ISIS 721744 or IONIS-PKK-LRx) in Participants With Hereditary Angioedema (HAE)

NCT05139810
View directory record Official record
Conditions
Hereditary Angioedema
Interventions
Donidalorsen, Placebo
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
12 Years and older
Enrollment
91 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
15
States / cities
Scottsdale, Arizona • San Diego, California • Santa Monica, California + 12 more
Source: ClinicalTrials.gov public record
Updated Mar 6, 2025 · Synced Oct 20, 2026, 3:16 AM EDT
Completed No phase listed Observational

Characteristics of Nondystrophic Myotonias

NCT00244413
View directory record Official record
Conditions
Nondystrophic Myotonias, Myotonia Congenita, Myotonic Disorders
Interventions
Not listed
Lead sponsor
Richard Barohn, MD
Other
Eligibility
6 Years and older
Enrollment
94 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2012
U.S. locations
4
States / cities
Kansas City, Kansas • Boston, Massachusetts • Rochester, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Mar 6, 2013 · Synced Oct 20, 2026, 3:16 AM EDT
Active, not recruiting Not applicable Interventional

Hydrops: Diagnosing & Redefining Outcomes With Precision Study

NCT03412760
View directory record Official record
Conditions
Hydrops Fetalis, Birth Defect, Fetal Anomaly
Interventions
Exome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 55 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 17, 2026 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Phase 4 Interventional

Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia

NCT00002386
View directory record Official record
Conditions
HIV Infections, Hemophilia A
Interventions
Indinavir sulfate, Lamivudine, Stavudine, Zidovudine, Zalcitabine, Didanosine
Drug
Lead sponsor
Merck Sharp & Dohme LLC
Industry
Eligibility
16 Years and older · Male only
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
7
States / cities
San Francisco, California • Washington D.C., District of Columbia • Atlanta, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 20, 2026, 3:16 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 3, 2020 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Phase 1 Interventional

A Phase I Pharmacokinetic Study in HIV-Positive Subjects of Oral Ganciclovir and Concomitant Antiretroviral Zidovudine and Didanosine

NCT00002096
View directory record Official record
Conditions
Cytomegalovirus Infections, HIV Infections
Interventions
Zidovudine, Didanosine, Ganciclovir
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
18 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
3
States / cities
Irvine, California • Washington D.C., District of Columbia • Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 20, 2026, 3:16 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors

NCT01362803
View directory record Official record
Conditions
Neurofibromatosis 1, Neurofibromatosis Type 1, NF1, Neurofibroma, Plexiform
Interventions
AZD6244
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years to 18 Years
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2032
U.S. locations
4
States / cities
Washington D.C., District of Columbia • Bethesda, Maryland • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 20, 2026, 3:16 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care

NCT03460483
View directory record Official record
Conditions
Endometrial Adenocarcinoma, Endometrial Carcinoma, Lynch Syndrome, Relatives
Interventions
Genetic Counseling, Genetic Testing, Laboratory Biomarker Analysis, Mutation Carrier Screening
Other · Procedure
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
1,001 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2025
U.S. locations
9
States / cities
Akron, Ohio • Canton, Ohio • Cincinnati, Ohio + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 3, 2025 · Synced Oct 20, 2026, 3:16 AM EDT