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ClinicalTrials.gov public records Last synced Oct 4, 2026, 11:44 AM EDT

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Showing 73–96 of 9,396 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Disease Clear all
Active, not recruiting Phase 2 Interventional Results available

Tucatinib Plus Trastuzumab and Oxaliplatin-based Chemotherapy or Pembrolizumab-containing Combinations for HER2+ Gastrointestinal Cancers

NCT04430738
View directory record Official record
Conditions
Colorectal Carcinoma, Gastric Adenocarcinoma, GEJ Adenocarcinoma, Esophageal Adenocarcinoma, Cholangiocarcinoma, Gallbladder Carcinoma
Interventions
tucatinib, trastuzumab, oxaliplatin, leucovorin, fluorouracil, capecitabine, pembrolizumab
Drug
Lead sponsor
Seagen, a wholly owned subsidiary of Pfizer
Industry
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
21
States / cities
Phoenix, Arizona • Scottsdale, Arizona • Aurora, Colorado + 10 more
Source: ClinicalTrials.gov public record
Updated Feb 24, 2026 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 2 Interventional Results available

A Study of Pridopidine (ACR16) for the Treatment of Participants With Huntington's Disease

NCT00724048
View directory record Official record
Conditions
Huntington Disease
Interventions
ACR16, Placebo
Drug · Other
Lead sponsor
Teva Branded Pharmaceutical Products R&D, Inc.
Industry
Eligibility
30 Years and older
Enrollment
227 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2010
U.S. locations
22
States / cities
Birmingham, Alabama • San Diego, California • Littleton, Colorado + 18 more
Source: ClinicalTrials.gov public record
Updated Aug 31, 2023 · Synced Oct 4, 2026, 11:44 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Impact of Elastin Mediated Vascular Stiffness on End Organs

NCT02840448
View directory record Official record
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
3 Years to 85 Years
Enrollment
159 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2024
U.S. locations
2
States / cities
Bethesda, Maryland • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 4, 2026, 11:44 AM EDT
Terminated No phase listed Observational

Genetic Susceptibility to Kidney Cancer

NCT00854022
View directory record Official record
Conditions
Renal Cell Carcinoma
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2013
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 25, 2020 · Synced Oct 4, 2026, 11:44 AM EDT
Not listed No phase listed Observational

Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort

NCT05295277
View directory record Official record
Conditions
Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly, Fragile X Syndrome, Facioscapulohumeral Muscular Dystrophy 1
Interventions
Standard of care genetic testing group
Other
Lead sponsor
Bionano Genomics
Industry
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
8
States / cities
Atlanta, Georgia • Augusta, Georgia • Iowa City, Iowa + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 7, 2023 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 2 Interventional Results available

Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1

NCT00577577
View directory record Official record
Conditions
Myotonic Dystrophy Type 1
Interventions
rhIGF-I/rhIGFBP-3, placebo
Drug
Lead sponsor
Insmed Incorporated
Industry
Eligibility
21 Years to 65 Years
Enrollment
69 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
12
States / cities
Orange, California • Sacramento, California • Kansas City, Kansas + 9 more
Source: ClinicalTrials.gov public record
Updated Jan 6, 2022 · Synced Oct 4, 2026, 11:44 AM EDT
Completed No phase listed Observational

Diagnostic and Screening Study of Genetic Disorders

NCT00006057
View directory record Official record
Conditions
Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 2 Interventional Results available

A Study of IMR-687 in Adult Participants With Sickle Cell Anemia (Homozygous HbSS or Sickle-β0 Thalassemia)

NCT03401112
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
IMR-687, Placebo
Drug
Lead sponsor
Cardurion Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 55 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
7
States / cities
Oakland, California • Farmington, Connecticut • Hollywood, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated May 15, 2025 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers Results available

A Study to Assess the Safety and Pharmacokinetics of HBI-002, an Oral Carbon Monoxide Therapeutic, in Healthy Volunteers

NCT03926819
View directory record Official record
Conditions
Anemia, Sickle Cell
Interventions
HBI-002
Drug
Lead sponsor
Hillhurst Biopharmaceuticals, Inc.
Industry
Eligibility
18 Years to 55 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2023
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated May 23, 2025 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 2Phase 3 Interventional Results available

An Open-label Safety, Efficacy and Pharmacokinetic Study of a Recombinant FVIII Compared to Recombinant Human Antihemophilic FVIII in Patients With Severe Hemophilia A

NCT01486927
View directory record Official record
Conditions
Hemophilia A
Interventions
rVIII-SingleChain, Octocog alfa
Biological
Lead sponsor
CSL Behring
Industry
Eligibility
12 Years to 65 Years · Male only
Enrollment
175 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
9
States / cities
Sacramento, California • San Diego, California • Aurora, Colorado + 6 more
Source: ClinicalTrials.gov public record
Updated Aug 9, 2016 · Synced Oct 4, 2026, 11:44 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant

NCT06560242
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Speech discrimination
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
6 Months to 26 Months
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 3 Interventional Results available

A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema

NCT01912456
View directory record Official record
Conditions
Hereditary Angioedema Types I and II
Interventions
Low-volume C1-esterase inhibitor, Higher-volume C1-esterase inhibitor, Low-volume placebo, Higher-volume placebo
Biological
Lead sponsor
CSL Behring
Industry
Eligibility
12 Years and older
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
19
States / cities
Birmingham, Alabama • Scottsdale, Arizona • Bell Gardens, California + 16 more
Source: ClinicalTrials.gov public record
Updated Jan 29, 2021 · Synced Oct 4, 2026, 11:44 AM EDT
Active, not recruiting Phase 3 Interventional

A Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T)

NCT06673056
View directory record Official record
Conditions
Ataxia-Telangiectasia, Ataxia-Telangiectasia (A-T)
Interventions
N-Acetyl-L-Leucine, Placebo
Drug · Other
Lead sponsor
IntraBio Inc
Industry
Eligibility
4 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
3
States / cities
Los Angeles, California • Boston, Massachusetts • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 3, 2025 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 3 Interventional

Clarification of Optimal Anticoagulation Through Genetics

NCT00839657
View directory record Official record
Conditions
Stroke, Venous Thrombosis, Atrial Fibrillation, Atrial Flutter
Interventions
Genotype-guided dosing algorithm for warfarin, Clinical-guided dosing algorithm for warfarin
Behavioral
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years and older
Enrollment
1,015 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
18
States / cities
Birmingham, Alabama • San Francisco, California • Gainesville, Florida + 15 more
Source: ClinicalTrials.gov public record
Updated Apr 20, 2016 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Not applicable Interventional

Implementation of a Clinical Tool to Improve Waitlist Mortality in Patients With Cystic Fibrosis

NCT04687475
View directory record Official record
Conditions
Cystic Fibrosis, Lung Transplant; Complications
Interventions
Clinical Tool (Mobile Spirometry and Survey)
Other
Lead sponsor
The Cleveland Clinic
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 29, 2026 · Synced Oct 4, 2026, 11:44 AM EDT
Not listed Not applicable Interventional Results available

Perinatal Precision Medicine

NCT03211039
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome, Mendelian Disorders
Interventions
Genomic sequencing and molecular diagnostic results, if any.
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Up to 4 Months
Enrollment
213 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 1, 2024 · Synced Oct 4, 2026, 11:44 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

The Efficacy of 3% Kanuka Oil Versus 1% Hydrocortisone Cream in Patients With Atopic Dermatitis

NCT06488742
View directory record Official record
Conditions
Dermatitis, Atopic, Pruritus
Interventions
3% kanuka oil
Other
Lead sponsor
Nexgen Dermatologics, Inc.
Industry
Eligibility
12 Years to 75 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2025
U.S. locations
1
States / cities
Boynton Beach, Florida
Source: ClinicalTrials.gov public record
Updated Jul 5, 2024 · Synced Oct 4, 2026, 11:44 AM EDT
Terminated Phase 4 Interventional Results available

Study of Emicizumab Prophylaxis in Participants With Hemophilia A With or Without Inhibitors Undergoing Minor Surgical Procedures

NCT03361137
View directory record Official record
Conditions
Hemophilia A
Interventions
Emicizumab
Drug
Lead sponsor
Genentech, Inc.
Industry
Eligibility
Not listed
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
8
States / cities
Los Angeles, California • Palo Alto, California • Gainesville, Florida + 5 more
Source: ClinicalTrials.gov public record
Updated Mar 1, 2021 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Examining the Role of Genetics in Determining the Immune Response to an HIV Vaccine in HIV-Uninfected Adult Twins

NCT01054872
View directory record Official record
Conditions
HIV Infections
Interventions
HIV-1 DNA plasmid vaccine, HIV-1 recombinant Ad5 vaccine
Biological
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 50 Years
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2016
U.S. locations
2
States / cities
Boston, Massachusetts • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Oct 15, 2021 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 2 Interventional

Hematopoietic Stem Cell Transplant for Fanconi Anemia

NCT01071239
View directory record Official record
Conditions
Fanconi Anemia
Interventions
CliniMACs device, Busulfan, Fludarabine, Cyclophosphamide, ATG
Device · Drug
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2016
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Sep 11, 2019 · Synced Oct 4, 2026, 11:44 AM 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 4, 2026, 11:44 AM EDT
Completed Phase 3 Interventional Results available

Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases.

NCT00278954
View directory record Official record
Conditions
Primary Immunodeficiency, Common Variable Hypogammaglobulinemia, X-linked Hypogammaglobulinemia, Hypogammaglobulinemia, Immunodeficiency With Hyper-IgM, Wiskott-Aldrich Syndrome
Interventions
Gammaplex (Intravenous immunoglobulin)
Biological
Lead sponsor
Bio Products Laboratory
Other
Eligibility
3 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2007
U.S. locations
7
States / cities
North Palm Beach, Florida • Atlanta, Georgia • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Jan 24, 2013 · Synced Oct 4, 2026, 11:44 AM EDT
Recruiting Phase 1Phase 2 Interventional

Topical Imiquimod Treatment of Oral Dysplasia

NCT07210775
View directory record Official record
Conditions
Oral Dysplasia, Leukoplakia Oral, Leukoplakia
Interventions
Imiquimod (topical use)
Drug
Lead sponsor
University of Southern California
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Mar 4, 2026 · Synced Oct 4, 2026, 11:44 AM EDT
Completed Phase 2Phase 3 Interventional Results available

Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy

NCT03039686
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
RO7239361, Placebo for RO7239361
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
6 Years to 11 Years · Male only
Enrollment
166 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
17
States / cities
Phoenix, Arizona • Palo Alto, California • Sacramento, California + 14 more
Source: ClinicalTrials.gov public record
Updated Dec 21, 2020 · Synced Oct 4, 2026, 11:44 AM EDT