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ClinicalTrials.gov public records Last synced Oct 21, 2026, 1:45 AM EDT

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Showing 25–48 of 574 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Testing Clear all
Active, not recruiting No phase listed Observational

A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice

NCT04475926
View directory record Official record
Conditions
Limb-girdle Muscular Dystrophy
Interventions
Not listed
Lead sponsor
Sarepta Therapeutics, Inc.
Industry
Eligibility
4 Years and older
Enrollment
205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
11
States / cities
Phoenix, Arizona • Little Rock, Arkansas • La Jolla, California + 8 more
Source: ClinicalTrials.gov public record
Updated Nov 6, 2025 · Synced Oct 21, 2026, 1:45 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

NCT03160274
View directory record Official record
Conditions
Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions, Kidney Neoplasms, Bone Cancer, Thyroid Neoplasms, Other Cancer
Interventions
Genetic screening
Genetic
Lead sponsor
The University of Texas Health Science Center at San Antonio
Other
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2030
U.S. locations
1
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Oct 15, 2025 · Synced Oct 21, 2026, 1:45 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Testing Trametinib as a Potential Targeted Treatment in Cancers With NF1 Genetic Changes (MATCH-Subprotocol S1)

NCT04439318
View directory record Official record
Conditions
Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm, Refractory Multiple Myeloma
Interventions
Trametinib Dimethyl Sulfoxide
Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 17, 2026 · Synced Oct 21, 2026, 1:45 AM EDT
Completed Not applicable Interventional

Online Mindfulness-based Tic Reduction

NCT03525626
View directory record Official record
Conditions
Tourette Syndrome, Tic Disorders
Interventions
Online Mindfulness-based Tic Reduction
Behavioral
Lead sponsor
Bowdoin College
Other
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018
U.S. locations
2
States / cities
Brunswick, Maine • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 9, 2019 · Synced Oct 21, 2026, 1:45 AM EDT
Completed Not applicable Interventional

Pharmacogenetic Testing on an Outpatient Population With a Depression Diagnosis

NCT02443584
View directory record Official record
Conditions
Major Depressive Disorder
Interventions
pharmacogenetic testing
Other
Lead sponsor
Avera McKennan Hospital & University Health Center
Other
Eligibility
18 Years and older
Enrollment
84 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Sioux Falls, South Dakota
Source: ClinicalTrials.gov public record
Updated May 3, 2017 · Synced Oct 21, 2026, 1:45 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

GIA in Cascade Testing

NCT04142333
View directory record Official record
Conditions
Genetic Predisposition
Interventions
GIA
Genetic
Lead sponsor
University of Virginia
Other
Eligibility
18 Years and older · Female only
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
1
States / cities
Charlottesville, Virginia
Source: ClinicalTrials.gov public record
Updated Nov 3, 2022 · Synced Oct 21, 2026, 1:45 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status

NCT01629940
View directory record Official record
Conditions
X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
Interventions
Not listed
Lead sponsor
Edimer Pharmaceuticals
Industry
Eligibility
Male only
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012
U.S. locations
1
States / cities
Orlando, Florida
Source: ClinicalTrials.gov public record
Updated Dec 18, 2012 · Synced Oct 21, 2026, 1:45 AM EDT
Completed Not applicable Interventional

Genetic Testing Decision Aid

NCT05470920
View directory record Official record
Conditions
Epithelial Ovarian Carcinoma, Pancreas Adenocarcinoma
Interventions
Electronic Decision Aid, Pre-Test Genetic Counseling
Behavioral
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years and older
Enrollment
297 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
2
States / cities
Boston, Massachusetts • Danvers, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 21, 2026, 1:45 AM EDT
Completed No phase listed Observational

Primary Hyperoxaluria Mutation Genotyping/Phenotyping

NCT02340689
View directory record Official record
Conditions
Primary Hyperoxaluria
Interventions
Genetic Analysis
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
1 Day and older
Enrollment
1,235 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2018
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Aug 19, 2019 · Synced Oct 21, 2026, 1:45 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

NCT00950118
View directory record Official record
Conditions
Congenital Diaphragmatic Hernia
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2027
U.S. locations
13
States / cities
Chicago, Illinois • Ann Arbor, Michigan • St Louis, Missouri + 9 more
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 21, 2026, 1:45 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

High Risk Multiple Gestation Study

NCT02278874
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
99 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
4
States / cities
Boston, Massachusetts • Glen Cove, New York • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 13, 2019 · Synced Oct 21, 2026, 1:45 AM EDT
Completed Not applicable Interventional

Ensuring Patients' Informed Access to Noninvasive Prenatal Testing

NCT03420274
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome, Prenatal Disorder, Prenatal Maternal Abnormality, Pregnancy Complications
Interventions
NEST, Usual care
Behavioral
Lead sponsor
The Cleveland Clinic
Other
Eligibility
18 Years and older
Enrollment
691 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
2
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 2, 2026 · Synced Oct 21, 2026, 1:45 AM EDT
Completed No phase listed Observational

Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)

NCT01016756
View directory record Official record
Conditions
PHACE Syndrome
Interventions
Not listed
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
Not listed
Enrollment
341 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2022
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Mar 28, 2023 · Synced Oct 21, 2026, 1:45 AM EDT
Terminated Phase 2 Interventional Results available

Genetic Testing in Predicting Response to Paclitaxel in Women With Breast Cancer

NCT00088829
View directory record Official record
Conditions
Breast Cancer
Interventions
Paclitaxel, microarray analysis, biopsy, neoadjuvant therapy
Drug · Genetic · Procedure
Lead sponsor
Georgetown University
Other
Eligibility
18 Years and older · Female only
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2012
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jul 11, 2018 · Synced Oct 21, 2026, 1:45 AM EDT
Completed No phase listed Observational

Genetic Analysis to Evaluate the Racial Difference in the Outcome of Patients With Colon Cancer

NCT01479894
View directory record Official record
Conditions
Colon Cancer
Interventions
Not listed
Lead sponsor
University of Arkansas
Other
Eligibility
18 Years and older
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
1
States / cities
Little Rock, Arkansas
Source: ClinicalTrials.gov public record
Updated Aug 5, 2021 · Synced Oct 21, 2026, 1:45 AM EDT
Terminated No phase listed Observational

A Study Comparing Factor Level and Inhibitor Titer Testing Results Drawn From Central Venous Lines and Venipuncture

NCT02402829
View directory record Official record
Conditions
Hemophilia A, Factor VIII Deficiency, Hemophilia, Hemophilia B, Factor IX Deficiency
Interventions
Peripheral Vein Blood draw
Procedure
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
1 Year to 21 Years · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Jan 6, 2021 · Synced Oct 21, 2026, 1:45 AM EDT
Completed Not applicable Interventional

Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer

NCT00004210
View directory record Official record
Conditions
Colorectal Cancer
Interventions
loss of heterozygosity analysis, microsatellite instability analysis, mutation analysis, counseling intervention
Other
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
900 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2011
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 24, 2014 · Synced Oct 21, 2026, 1:45 AM EDT
Completed No phase listed Observational

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

NCT00892580
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
STX209
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
8
States / cities
Phoenix, Arizona • Los Angeles, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Oct 21, 2026, 1:45 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Early Detection of GEnetic Risk (EDGE)

NCT04746794
View directory record Official record
Conditions
Genetic Predisposition
Interventions
Population-level screening
Behavioral
Lead sponsor
University of Washington
Other
Eligibility
25 Years and older
Enrollment
20,184 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2023
U.S. locations
2
States / cities
Billings, Montana • Tacoma, Washington
Source: ClinicalTrials.gov public record
Updated Oct 9, 2024 · Synced Oct 21, 2026, 1:45 AM EDT
Completed No phase listed Observational

Genetic Analysis of Hereditary Prostate Cancer

NCT00001469
View directory record Official record
Conditions
Prostate Cancer
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
7,776 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1995 – 2009
U.S. locations
7
States / cities
Phoenix, Arizona • Washington D.C., District of Columbia • New Orleans, Louisiana + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 16, 2020 · Synced Oct 21, 2026, 1:45 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 21, 2026, 1:45 AM EDT
Terminated No phase listed Observational

Controlled Ventilation CT in CF Infants

NCT01200888
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Not listed
Lead sponsor
Stanford University
Other
Eligibility
2 Months to 5 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Apr 23, 2018 · Synced Oct 21, 2026, 1:45 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Study of the Communication of Genetic Test Results By Telephone: A Multi-Center Study

NCT01736345
View directory record Official record
Conditions
Candidates for BRCA 1/2 Genetic Testing
Interventions
Genetic Providers, Visual Aids, Post-Disclosure Asessments, In-person Clinical Follow-Up, 6 Month and 12 Month Assessments
Genetic · Other
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
18 Years and older
Enrollment
289 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2015
U.S. locations
5
States / cities
Chicago, Illinois • Camden, New Jersey • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 27, 2022 · Synced Oct 21, 2026, 1:45 AM EDT
Completed Phase 2 Interventional

Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]

NCT04945772
View directory record Official record
Conditions
Retinitis Pigmentosa, Retinitis, Retinal Diseases, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Degeneration
Interventions
Gene Therapy Product-MCO-010, Sham Injection
Biological · Procedure
Lead sponsor
Nanoscope Therapeutics Inc.
Industry
Eligibility
18 Years and older
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
5
States / cities
Beverly Hills, California • Pensacola, Florida • Fargo, North Dakota + 2 more
Source: ClinicalTrials.gov public record
Updated Mar 22, 2024 · Synced Oct 21, 2026, 1:45 AM EDT