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ClinicalTrials.gov public records Last synced Sep 11, 2026, 5:30 AM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Variation Clear all
Recruiting Phase 1 Interventional Accepts healthy volunteers

Nicotinic Receptor Genetic Variation and Alcohol Reward

NCT03294460
View directory record Official record
Conditions
Alcohol Drinking
Interventions
Alcohol (Oral), Alcohol (IV), Alcohol (Ethanol)
Drug
Lead sponsor
National Institute on Alcohol Abuse and Alcoholism (NIAAA)
NIH
Eligibility
21 Years to 60 Years
Enrollment
128 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2026
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 27, 2026 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational

Surfactant Protein Genetic Variants in COVID-19 Infection

NCT04650191
View directory record Official record
Conditions
Coronavirus Infection
Interventions
Identification of genetic variants
Other
Lead sponsor
Milton S. Hershey Medical Center
Other
Eligibility
1 Day to 90 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Hershey, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 14, 2022 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Study to Estimate How Common it is to Have Genetic Variants Associated With NAFLD

NCT04494360
View directory record Official record
Conditions
Healthy
Interventions
No intervention
Other
Lead sponsor
Janssen Research & Development, LLC
Industry
Eligibility
18 Years to 65 Years
Enrollment
830 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
3
States / cities
Hollywood, Florida • Lenexa, Kansas • San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Mar 29, 2025 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2

NCT04470713
View directory record Official record
Conditions
GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease, AB Variant Gangliosidosis GM2, Sandhoff Disease
Interventions
Not listed
Lead sponsor
Idorsia Pharmaceuticals Ltd.
Industry
Eligibility
0 Months and older
Enrollment
226 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
3
States / cities
Chicago, Illinois • Rochester, Minnesota • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Nov 7, 2021 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational

Association Between Genetic Variant Scores and Warfarin Effect

NCT03894878
View directory record Official record
Conditions
Atrial Fibrillation, Deep Vein Thrombosis, Intracardiac Thrombus, Pulmonary Embolism, Venous Thromboembolic Disease
Interventions
Not listed
Lead sponsor
Cipherome, Inc.
Industry
Eligibility
18 Years to 99 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
Santa Clara, California
Source: ClinicalTrials.gov public record
Updated Feb 15, 2023 · Synced Sep 11, 2026, 5:30 AM EDT
Enrolling by invitation No phase listed Observational

Long-term Follow-up Study of Gene Therapy for Arrhythmogenic Cardiomyopathy Due to a Plakophilin-2 Pathogenic Variant

NCT07050160
View directory record Official record
Conditions
Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
Interventions
Not listed
Lead sponsor
Lexeo Therapeutics
Industry
Eligibility
18 Years to 67 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Nov 11, 2025 · Synced Sep 11, 2026, 5:30 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Effect of Genetic Variants in MATE1 and OCT3 on the Pharmacodynamics of Metformin in African Americans

NCT01681693
View directory record Official record
Conditions
Healthy, Type 2 Diabetes Mellitus
Interventions
Metformin
Drug
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years and older
Enrollment
33 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2013
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Oct 22, 2014 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational

Use of Population Descriptors in Human Genetic Research

NCT00767702
View directory record Official record
Conditions
Population Groups, Genetics, Medical, Ethnology, Disease, Qualitative Research
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
21 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 5, 2019 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational

Markers for Breast Cancer

NCT00339248
View directory record Official record
Conditions
Breast Cancer
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
15 Years and older · Female only
Enrollment
2,632 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2004
U.S. locations
1
States / cities
Frederick, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 12, 2009 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational

Effect of Genetic Differences on Levels of Water Disinfection Byproducts in Blood After Showering

NCT00340535
View directory record Official record
Conditions
Normal Physiology
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 90 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2021
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 4, 2021 · Synced Sep 11, 2026, 5:30 AM EDT
Withdrawn Phase 1 Interventional

A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis

NCT00679744
View directory record Official record
Conditions
G(M2) Ganglioside, Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
Interventions
Pyrimethamine
Drug
Lead sponsor
Exsar Corporation
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2008
U.S. locations
2
States / cities
New York, New York • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 24, 2013 · Synced Sep 11, 2026, 5:30 AM EDT
Terminated Not applicable Interventional

Genetic Data Collection in Adult Participants to Identify Genetic Variants of Known Importance in Non-alcoholic Steatohepatitis (NASH)

NCT05423327
View directory record Official record
Conditions
Non-alcoholic Steatohepatitis (NASH)
Interventions
No Intervention
Procedure
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
18 Years to 75 Years
Enrollment
5,311 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
30
States / cities
Coronado, California • Gardena, California • La Jolla, California + 20 more
Source: ClinicalTrials.gov public record
Updated Mar 16, 2023 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic Variants and Iron Absorption

NCT02197624
View directory record Official record
Conditions
Iron Absorption
Interventions
Not listed
Lead sponsor
Cornell University
Other
Eligibility
18 Years to 35 Years · Female only
Enrollment
57 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2014
U.S. locations
1
States / cities
Ithaca, New York
Source: ClinicalTrials.gov public record
Updated Jul 22, 2014 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Study to Compare Genetic Variations of IGF-I and IGF-II

NCT01329523
View directory record Official record
Conditions
Dementia
Interventions
Not listed
Lead sponsor
Avera McKennan Hospital & University Health Center
Other
Eligibility
50 Years to 81 Years
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2011
U.S. locations
1
States / cities
Sioux Falls, South Dakota
Source: ClinicalTrials.gov public record
Updated Oct 5, 2011 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational

A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

NCT04255680
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Buccal Swabs and Blood Draws
Diagnostic Test
Lead sponsor
Larimar Therapeutics, Inc.
Industry
Eligibility
12 Years to 65 Years
Enrollment
20 participants
Timeline
2020
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 17, 2020 · Synced Sep 11, 2026, 5:30 AM EDT
Active, not recruiting Phase 2 Interventional Accepts healthy volunteers

Discovery and Validation of Genetic Variants Affecting Microglial Activation in Alzheimer's Disease

NCT04840979
View directory record Official record
Conditions
Alzheimer Disease
Interventions
11C-ER176, 18F-florbetaben
Drug
Lead sponsor
Columbia University
Other
Eligibility
50 Years and older
Enrollment
107 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2026
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Sep 11, 2026, 5:30 AM EDT
Not listed No phase listed Observational

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

NCT05419245
View directory record Official record
Conditions
Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Gordon Syndrome
Interventions
Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review, PTSD Checklist for DSM-5, Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale, Review of Systems, FACE-Q | Craniofacial - Appearance of the Face, FACE-Q | Craniofacial - Appearance Distress, FACE-Q | Craniofacial - Facial Function
Other
Lead sponsor
Dufresne, Craig, MD, PC
Other
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jul 18, 2022 · Synced Sep 11, 2026, 5:30 AM EDT
Completed Not applicable Interventional

Evaluating Pharmacogenomic Variants for Cardiology Therapeutics

NCT04702113
View directory record Official record
Conditions
Thrombosis, Stent Thrombosis, Bleeding, Myocardial Infarction, Ischemic Stroke
Interventions
Cipherome Lighthouse Pilot
Diagnostic Test
Lead sponsor
Cipherome, Inc.
Industry
Eligibility
18 Years to 99 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Edinburg, Texas
Source: ClinicalTrials.gov public record
Updated Sep 28, 2023 · Synced Sep 11, 2026, 5:30 AM EDT
Withdrawn Phase 4 Interventional

Epidemiology and Treatment of Small-colony Variant Staphylococcus Aureus in Cystic Fibrosis

NCT02547116
View directory record Official record
Conditions
Cystic Fibrosis, MRSA
Interventions
Rifampin
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
12 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 13, 2021 · Synced Sep 11, 2026, 5:30 AM EDT
Not listed No phase listed Observational

Observational Study of the Impact of Genetic Testing on Healthcare Decisions and Care in Interventional Pain Management

NCT02485795
View directory record Official record
Conditions
Pain, Chronic Pain, Back Pain, Nociceptive Pain, Neuropathic Pain, Musculoskeletal Pain, Neck Pain, Pain, Intractable
Interventions
Observational
Other
Lead sponsor
Proove Bioscience, Inc.
Industry
Eligibility
18 Years and older
Enrollment
50,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
31
States / cities
Prescott, Arizona • Heber Springs, Arkansas • Beverly Hills, California + 24 more
Source: ClinicalTrials.gov public record
Updated May 31, 2017 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational

Patients' Perspectives on Identity, Ancestry and Genetics

NCT00359710
View directory record Official record
Conditions
Family History
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
21 Years and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 11, 2026, 5:30 AM EDT
Completed Early Phase 1 Interventional Accepts healthy volunteers

Thorough QT (TQT) Study to Evaluate the Effect of LC350189 on Cardiac Repolarization in Healthy Male and Female Subjects

NCT04966325
View directory record Official record
Conditions
Hyperuricemia, Gout, Qt Interval, Variation in
Interventions
LC350189 200mg, Placebo, Moxifloxacin 400mg, LC350189 600mg
Drug
Lead sponsor
LG Chem
Industry
Eligibility
18 Years to 55 Years
Enrollment
37 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Jan 5, 2022 · Synced Sep 11, 2026, 5:30 AM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

The Genetic, Protein, and Lipid Basis of Variation in Cholesterol Efflux

NCT04061018
View directory record Official record
Conditions
Lipid Metabolism Disorders
Interventions
Not listed
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
18 Years to 89 Years
Enrollment
86 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2025
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 19, 2026 · Synced Sep 11, 2026, 5:30 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Study to Evaluate the Safety and Effect of AVB-101, a Gene Therapy Product, in Subjects With a Genetic Sub-type of Frontotemporal Dementia (FTD-GRN)

NCT06064890
View directory record Official record
Conditions
Frontotemporal Dementia, FTD, FTD-GRN, Dementia, Frontotemporal
Interventions
Intrathalamic AAV.PGRN administration, Intrathalamic AVB-101
Procedure · Genetic
Lead sponsor
AviadoBio Ltd
Industry
Eligibility
30 Years to 75 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2030
U.S. locations
3
States / cities
Columbus, Ohio • Nashville, Tennessee • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Aug 12, 2026 · Synced Sep 11, 2026, 5:30 AM EDT