Independent directory Public ClinicalTrials.gov records United States
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ClinicalTrials.gov public records Last synced Oct 19, 2026, 11:51 PM EDT

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Showing 1–24 of 56 matching trials from the live ClinicalTrials.gov search.
Not yet recruiting No phase listed Observational

Genetic Investigation of Cancer Predisposition

NCT04620278
Conditions
Genetic Predisposition, Cancer
Interventions
DNA or RNA Sequencing
Genetic
Lead sponsor
The University of Texas Health Science Center at San Antonio
Other
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2035
U.S. locations
1
States / cities
San Antonio, Texas
Conditions
Colorectal Cancer, Rectal Cancer
Interventions
SignateraTM assay
Genetic
Lead sponsor
Case Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Cleveland, Ohio
Completed No phase listed Observational Accepts healthy volunteers Results available

Prenatal Genetic Diagnosis by Genomic Sequencing

NCT03936101
Conditions
Fetal Structural Anomalies
Interventions
Prenatal Genomic Sequencing
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,097 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
5
States / cities
New York, New York • Chapel Hill, North Carolina • Cincinnati, Ohio + 1 more
Conditions
Medulloblastoma, Medulloblastoma, Childhood, Medulloblastoma Recurrent, Ependymoma, Ependymoma Malignant, Ependymoma of Brain
Interventions
Specialized Tumor Board Treatment Plan, Combinations
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
12 Months to 39 Years
Enrollment
74 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
9
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 5 more
Completed Not applicable Interventional Accepts healthy volunteers Results available

Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

NCT03276637
Conditions
Healthy Adults, Genetic Predisposition to Disease
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years and older
Enrollment
105 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2020
U.S. locations
3
States / cities
Boston, Massachusetts • Houston, Texas • San Antonio, Texas
Conditions
Pulmonary Arterial Hypertension
Interventions
Protein Elisa analysis, microRNA analysis, whole exome sequencing
Diagnostic Test
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
2 Years to 17 Years
Enrollment
40 participants
Timeline
2020 – 2023
U.S. locations
1
States / cities
Milwaukee, Wisconsin
Enrolling by invitation Not applicable Interventional

Genome Sequencing in the Intensive Care Unit Population

NCT04848090
Conditions
Infant, Newborn, Disease, Genetic Disease
Interventions
Neonate WGS Testing
Diagnostic Test
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
Up to 1 Year
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Not listed Not applicable Interventional Results available

Perinatal Precision Medicine

NCT03211039
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
Conditions
Autoimmune Gastrointestinal Dysmotility
Interventions
Blood sample collection
Diagnostic Test
Lead sponsor
Johns Hopkins University
Other
Eligibility
13 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
1
States / cities
Baltimore, Maryland
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Economic and Clinical Outcomes of (Whole Exome) Sequencing in Tapestry

NCT05045222
Conditions
Health Care Utilization
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2031
U.S. locations
2
States / cities
Scottsdale, Arizona • Rochester, Minnesota
Enrolling by invitation Not applicable Interventional

Genetics of Differences of Sex Development and Hypospadias

NCT03102554
Conditions
Disorders of Sex Development, Hypospadias
Interventions
Return of Genetic Results
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Breast Carcinoma
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
162 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2100
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Breast Carcinoma
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
354 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2100
U.S. locations
1
States / cities
Boston, Massachusetts
Completed Not applicable Interventional Results available

Clinical Utility of Pediatric Whole Exome Sequencing

NCT03525431
Conditions
Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly, Metabolic Disease, Epilepsy, Neuro-Degenerative Disease, Cerebral Palsy, Developmental Delay, Developmental Defect
Interventions
Whole Exome Sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 25 Years
Enrollment
529 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
4
States / cities
Fresno, California • Oakland, California • San Francisco, California
Conditions
Rare Diseases, Genetic Disease
Interventions
Genome sequencing
Diagnostic Test
Lead sponsor
VA Boston Healthcare System
Federal
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Completed No phase listed Observational Accepts healthy volunteers

A Safety Study Assessing the Effects of Receiving Genome Sequencing Results

NCT01692223
Conditions
History of Cancer
Interventions
qualitative interviews
Behavioral
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2018
U.S. locations
1
States / cities
New York, New York
Conditions
Solid Tumors, Hematological Malignancies
Interventions
Molecular Analysis of Cancer
Other
Lead sponsor
Rhode Island Hospital
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
3
States / cities
East Greenwich, Rhode Island • Providence, Rhode Island
Conditions
Breast Carcinoma, Neuropathy
Interventions
Laboratory Biomarker Analysis
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
575 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2100
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Heart Disease Congenital
Interventions
Exposure of interest: Brain MRI, Exposure of interest: neurodevelopmental assessments
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
8 Years and older
Enrollment
196 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
8
States / cities
Los Angeles, California • San Francisco, California • New Haven, Connecticut + 5 more
Conditions
Alveolar Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma
Interventions
Biospecimen Collection, Laboratory Biomarker Analysis, Questionnaire Administration
Procedure · Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Up to 50 Years
Enrollment
900 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Epilepsy, Epileptic Encephalopathy
Interventions
Exome and/or whole genome sequencing
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Esophageal Neoplasm, Esophageal Neoplasms Malignancy Unspecified, Esophageal Neoplasms Malignant, Cancer of Esophagus, Cancer of the Esophagus, Esophageal Cancer, Esophagus Cancer, Neoplasm, Esophageal
Interventions
Blood and Tissue Collection
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
19 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Rochester, Minnesota
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
University of Pittsburgh
Other
Eligibility
Up to 100 Years
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2040
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Completed Not applicable Interventional Accepts healthy volunteers

Newborn Genomic Sequencing Pilot Study

NCT06276348
Conditions
Genetic Disease
Interventions
Whole genome sequencing, BeginNGS test, WES
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 10 Days
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
San Diego, California