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Showing 1–24 of 983 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Genetic testing Clear all
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD

NCT02972580
View directory record Official record
Conditions
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Interventions
Genetic characterization
Genetic
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
18 Years and older · Female only
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2030
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 26, 2024 · Synced Sep 2, 2026, 10:23 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome

NCT04009148
View directory record Official record
Conditions
BRCA-Mutated Ovarian Carcinoma, BRIP1 Gene Mutation, MSH2 A636P, MLH1 Gene Mutation, MSH6 Gene Mutation, PMS2 Gene Mutation, EPCAM, RAD51C Gene Mutation
Interventions
CASCADE genetic screening
Other
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years to 99 Years
Enrollment
118 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2027
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated May 13, 2026 · Synced Sep 2, 2026, 10:23 AM EDT
Active, not recruiting Phase 3 Interventional Results available

Ibrutinib and Rituximab Compared With Fludarabine Phosphate, Cyclophosphamide, and Rituximab in Treating Patients With Untreated Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma

NCT02048813
View directory record Official record
Conditions
Anemia, Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma
Interventions
Cyclophosphamide, Fludarabine Phosphate, Ibrutinib, Laboratory Biomarker Analysis, Pharmacogenomic Study, Quality-of-Life Assessment, Rituximab
Drug · Other · Biological
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 70 Years
Enrollment
529 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2026
U.S. locations
781
States / cities
Birmingham, Alabama • Anchorage, Alaska • Fairbanks, Alaska + 509 more
Source: ClinicalTrials.gov public record
Updated Aug 27, 2026 · Synced Sep 2, 2026, 10:23 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Consent for Use of Stored Patient Specimens for Future Testing

NCT00031408
View directory record Official record
Conditions
HIV Infections
Interventions
Not listed
Lead sponsor
Advancing Clinical Therapeutics Globally for HIV/AIDS and Other Infections
Network
Eligibility
Not listed
Enrollment
17,444 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2027
U.S. locations
62
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 32 more
Source: ClinicalTrials.gov public record
Updated Oct 6, 2025 · Synced Sep 2, 2026, 10:23 AM EDT
Completed Phase 2 Interventional

Molecular Risk Assessment in Planning Treatment for Patients With Non-Hodgkin's Lymphoma

NCT00055640
View directory record Official record
Conditions
Lymphoma
Interventions
rituximab, cyclophosphamide, doxorubicin hydrochloride, prednisone, vincristine sulfate, microarray analysis
Biological · Drug · Genetic
Lead sponsor
Case Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2006
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 9, 2010 · Synced Sep 2, 2026, 10:23 AM EDT
Recruiting Not applicable Interventional

Peer Navigation for the Support of Metastatic Prostate Cancer Patients Undergoing Genetic Evaluation

NCT05487846
View directory record Official record
Conditions
Metastatic Prostate Carcinoma, Stage III Prostate Cancer AJCC v8, Stage IV Prostate Cancer AJCC v8
Interventions
Patient Navigation, Genetic Counseling, Survey Administration, Best Practice
Behavioral · Other
Lead sponsor
Thomas Jefferson University
Other
Eligibility
18 Years and older · Male only
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 13, 2026 · Synced Sep 2, 2026, 10:23 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)

NCT03155620
View directory record Official record
Conditions
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Non-Hodgkin Lymphoma, Ann Arbor Stage IV Non-Hodgkin Lymphoma, Histiocytic Sarcoma, Juvenile Xanthogranuloma, Langerhans Cell Histiocytosis, Malignant Glioma, Recurrent Childhood Rhabdomyosarcoma, Recurrent Ependymoma, Recurrent Ewing Sarcoma, Recurrent Glioma, Recurrent Hepatoblastoma, Recurrent Langerhans Cell Histiocytosis, Recurrent Malignant Germ Cell Tumor, Recurrent Malignant Solid Neoplasm, Recurrent Medulloblastoma, Recurrent Neuroblastoma, Recurrent Non-Hodgkin Lymphoma, Recurrent Osteosarcoma, Recurrent Peripheral Primitive Neuroectodermal Tumor, Recurrent Primary Central Nervous System Neoplasm, Recurrent Rhabdoid Tumor, Recurrent Soft Tissue Sarcoma, Refractory Ewing Sarcoma, Refractory Glioma, Refractory Hepatoblastoma, Refractory Langerhans Cell Histiocytosis, Refractory Malignant Germ Cell Tumor, Refractory Malignant Solid Neoplasm, Refractory Medulloblastoma, Refractory Neuroblastoma, Refractory Non-Hodgkin Lymphoma, Refractory Osteosarcoma, Refractory Peripheral Primitive Neuroectodermal Tumor, Refractory Primary Central Nervous System Neoplasm, Refractory Rhabdoid Tumor, Refractory Rhabdomyosarcoma, Rhabdoid Tumor, Stage III Osteosarcoma AJCC v7, Stage III Soft Tissue Sarcoma AJCC v7, Stage IV Osteosarcoma AJCC v7, Stage IV Soft Tissue Sarcoma AJCC v7, Stage IVA Osteosarcoma AJCC v7, Stage IVB Osteosarcoma AJCC v7, Wilms Tumor
Interventions
Biopsy Procedure, Biospecimen Collection, Bone Marrow Aspiration and Biopsy, Bone Scan, Computed Tomography, Ensartinib, Erdafitinib, Ivosidenib, Laboratory Biomarker Analysis, Larotrectinib Sulfate, Magnetic Resonance Imaging, Mutation Carrier Screening, Olaparib, Palbociclib, Pharmacological Study, Positron Emission Tomography, Radionuclide Imaging, Samotolisib, Selpercatinib, Selumetinib Sulfate, Tazemetostat, Tipifarnib, Ulixertinib, Vemurafenib, X-Ray Imaging
Procedure · Drug · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
12 Months to 21 Years
Enrollment
1,377 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
168
States / cities
Birmingham, Alabama • Anchorage, Alaska • Mesa, Arizona + 126 more
Source: ClinicalTrials.gov public record
Updated Jul 23, 2026 · Synced Sep 2, 2026, 10:23 AM EDT
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Network-Level Mechanisms for Preclinical Alzheimer's Disease Development

NCT03461861
View directory record Official record
Conditions
APOE 4
Interventions
AGB101 220 mg, Placebo
Drug · Other
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
55 Years to 75 Years
Enrollment
26 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2021
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Jul 2, 2023 · Synced Sep 2, 2026, 10:23 AM EDT
Completed No phase listed Observational

Apolipoprotein E (ApoE) and Metabolism

NCT03109561
View directory record Official record
Conditions
Cognitive Function, Healthy
Interventions
Resting State Indirect Calorimetry, ApoE, Metabolism, Cognitive Challenge
Other · Genetic · Diagnostic Test
Lead sponsor
Lance Johnson
Other
Eligibility
18 Years to 65 Years
Enrollment
100 participants
Timeline
2018 – 2020
U.S. locations
1
States / cities
Lexington, Kentucky
Source: ClinicalTrials.gov public record
Updated Jul 22, 2020 · Synced Sep 2, 2026, 10:23 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 16, 2026 · Synced Sep 2, 2026, 10:23 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer

NCT05427240
View directory record Official record
Conditions
Cancer
Interventions
Pre-Test Intervention, Standard of Care, Post-Test Intervention
Other
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
18 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 15, 2026 · Synced Sep 2, 2026, 10:23 AM EDT
Completed Not applicable Interventional Results available

Pharmacogenomic Testing in Primary Care

NCT03270891
View directory record Official record
Conditions
Antidepressants Causing Adverse Effects in Therapeutic Use
Interventions
PGx test
Diagnostic Test
Lead sponsor
University of Michigan
Other
Eligibility
18 Years and older
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Apr 10, 2023 · Synced Sep 2, 2026, 10:23 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 18, 2019 · Synced Sep 2, 2026, 10:23 AM EDT
Active, not recruiting Phase 3 Interventional Accepts healthy volunteers

Digital Tomosynthesis Mammography and Digital Mammography in Screening Patients for Breast Cancer

NCT03233191
View directory record Official record
Conditions
Breast Screening
Interventions
Digital Mammography, Digital Tomosynthesis Mammography, Laboratory Biomarker Analysis
Procedure · Other
Lead sponsor
ECOG-ACRIN Cancer Research Group
Network
Eligibility
45 Years to 74 Years · Female only
Enrollment
108,508 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2030
U.S. locations
133
States / cities
Birmingham, Alabama • Mobile, Alabama • Phoenix, Arizona + 107 more
Source: ClinicalTrials.gov public record
Updated Jul 9, 2026 · Synced Sep 2, 2026, 10:23 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Biomarkers in Friedreich's Ataxia

NCT02497534
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
Not listed
Lead sponsor
University of Florida
Other
Eligibility
6 Years to 70 Years
Enrollment
203 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2030
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Sep 22, 2025 · Synced Sep 2, 2026, 10:23 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Testing a Culturally Adapted Telephone Genetic Counseling Intervention

NCT03959267
View directory record Official record
Conditions
Breast Cancer, Hereditary Breast Cancer
Interventions
Telephone Genetic Counseling
Behavioral
Lead sponsor
Georgetown University
Other
Eligibility
21 Years to 90 Years · Female only
Enrollment
37 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2021
U.S. locations
4
States / cities
Washington D.C., District of Columbia • Hackensack, New Jersey • Alexandria, Virginia + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 31, 2021 · Synced Sep 2, 2026, 10:23 AM EDT
Completed Not applicable Interventional

The Genetic Information and Family Testing (GIFT) Study

NCT05552664
View directory record Official record
Conditions
Cancer
Interventions
GIFT
Genetic
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
18 Years and older
Enrollment
3,002 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
4
States / cities
Los Angeles, California • Stanford, California • Atlanta, Georgia + 1 more
Source: ClinicalTrials.gov public record
Updated Jan 25, 2026 · Synced Sep 2, 2026, 10:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes

NCT02198092
View directory record Official record
Conditions
Familial Adenomatous Polyposis, Map Syndrome, Lynch Syndrome, Hnpcc, Colorectal Cancer
Interventions
Epi proColon Testing
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 27, 2019 · Synced Sep 2, 2026, 10:23 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Biomarker Discovery in Parkinson's Disease

NCT02016092
View directory record Official record
Conditions
Parkinson's Disease
Interventions
Not listed
Lead sponsor
The Parkinson's Institute
Other
Eligibility
18 Years to 90 Years
Enrollment
400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2016
U.S. locations
1
States / cities
Sunnyvale, California
Source: ClinicalTrials.gov public record
Updated Mar 13, 2016 · Synced Sep 2, 2026, 10:23 AM EDT
Completed No phase listed Observational

Screening for Studies on Inherited Eye Diseases

NCT00001732
View directory record Official record
Conditions
Hereditary Eye Disease
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
Not listed
Enrollment
800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 2, 2026, 10:23 AM EDT
Not listed Not applicable Interventional

The LUTEAL Trial: Luteal Stimulation vs. Estrogen Priming Protocol

NCT04447872
View directory record Official record
Conditions
Infertility, Diminished Ovarian Reserve, IVF
Interventions
Timing of injectable gonadotropins
Procedure
Lead sponsor
Northwell Health
Other
Eligibility
20 Years to 45 Years · Female only
Enrollment
142 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Manhasset, New York
Source: ClinicalTrials.gov public record
Updated Oct 15, 2023 · Synced Sep 2, 2026, 10:23 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Effect of Diet on Men and Women With Genetic Alterations Associated With Abnormal Blood Tests

NCT00108212
View directory record Official record
Conditions
Dyslipidemia
Interventions
Diet
Behavioral
Lead sponsor
US Department of Veterans Affairs
Federal
Eligibility
18 Years to 75 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2007
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 20, 2009 · Synced Sep 2, 2026, 10:23 AM EDT
Not listed No phase listed Observational

Genetics Study of Tissue Collected From Patients With Acute Myeloid Leukemia

NCT00898092
View directory record Official record
Conditions
Leukemia
Interventions
microarray analysis, molecular genetic technique, mutation analysis, polymerase chain reaction, reverse transcriptase-polymerase chain reaction, diagnostic laboratory biomarker analysis
Genetic · Other
Lead sponsor
Alliance for Clinical Trials in Oncology
Other
Eligibility
15 Years to 59 Years
Enrollment
735 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2006
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 16, 2021 · Synced Sep 2, 2026, 10:23 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

APOL1 Genetic Testing in African Americans

NCT05656261
View directory record Official record
Conditions
Genetic Predisposition, Chronic Kidney Diseases, Nephropathy, APOL1 Associated Kidney Disease, Disparities
Interventions
Assessment of the frequency of APOL-1 renal risk variant in the black population, and evaluating their attitudes about genetic testing and APOL1 genotype via self-administered surveys
Genetic
Lead sponsor
St. Louis University
Other
Eligibility
18 Years to 90 Years
Enrollment
600 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2027
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Mar 19, 2025 · Synced Sep 2, 2026, 10:23 AM EDT