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ClinicalTrials.gov public records Last synced Oct 23, 2026, 12:39 PM EDT

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Showing 25–48 of 74 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Exome sequencing Clear all
Active, not recruiting Phase 1 Interventional Results available

Abemaciclib Neuropharmacokinetics of Diffuse Midline Glioma Using Intratumoral Microdialysis

NCT05413304
View directory record Official record
Conditions
Glioma
Interventions
Pre-operative abemaciclib, Device for Cerebral Fluid Dialysate Collection, Ashion Analytics GEM ExTra, abemaciclib + temozolomide, Temozolomide, Brain MRI, Brain CT, EKG, Chest X-ray, Biopsy/resection
Drug · Device · Diagnostic Test + 1 more
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 39 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 6, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing

NCT03605004
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated May 11, 2020 · Synced Oct 23, 2026, 12:39 PM EDT
Completed Not applicable Interventional

Clinical Benefit of Using Molecular Profiling to Determine an Individualized Treatment Plan for Patients With High Grade Glioma

NCT03739372
View directory record Official record
Conditions
Glioma, Glioma of Brain, Cancer, Pediatric Cancer, Pediatric Brain Tumor, Astrocytoma, Glioblastoma, Hemispheric
Interventions
Specialized tumor board recommendation
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 21 Years
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
12
States / cities
San Diego, California • San Francisco, California • Washington D.C., District of Columbia + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 11, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Active, not recruiting Not applicable Interventional

Hydrops: Diagnosing & Redefining Outcomes With Precision Study

NCT03412760
View directory record Official record
Conditions
Hydrops Fetalis, Birth Defect, Fetal Anomaly
Interventions
Exome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 55 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Apr 17, 2026 · Synced Oct 23, 2026, 12:39 PM 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 23, 2026, 12:39 PM EDT
Enrolling by invitation Not applicable Interventional

Genome Sequencing in the Intensive Care Unit Population

NCT04848090
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 9, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Recruiting No phase listed Observational

Longitudinal Tumor Burden Quantification Using Circulating Tumor DNA in Metastatic Lobular Breast Cancer

NCT06666439
View directory record Official record
Conditions
Metastatic Invasive Lobular Carcinoma (mILC)
Interventions
circulating tumor DNA (ctDNA)
Diagnostic Test
Lead sponsor
Julia Foldi
Other
Eligibility
18 Years and older · Female only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 20, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops

NCT03911531
View directory record Official record
Conditions
Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate, Genetic Disorders
Interventions
Whole Exome Sequencing, Whole Genome Sequencing
Diagnostic Test
Lead sponsor
Thomas Jefferson University
Other
Eligibility
16 Years to 55 Years
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

Genomic Basis of Neurodevelopmental and Brain Outcomes in Congenital Heart Disease (CHD Brain and Genes)

NCT03070197
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 13, 2020 · Synced Oct 23, 2026, 12:39 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

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

NCT03276637
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Oct 2, 2024 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NCT01375543
View directory record Official record
Conditions
Genetic Predisposition
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
128 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 6, 2020 · Synced Oct 23, 2026, 12:39 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Cancer Health Assessments Reaching Many

NCT03426878
View directory record Official record
Conditions
Hereditary Cancer Syndrome
Interventions
Modified genetic counseling, Traditional genetic counseling
Other
Lead sponsor
Kaiser Permanente
Other
Eligibility
18 Years to 49 Years
Enrollment
967 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2022
U.S. locations
2
States / cities
Denver, Colorado • Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Sep 11, 2025 · Synced Oct 23, 2026, 12:39 PM EDT
Completed Not applicable Interventional

A Pilot Study Utilizing Proteomic and Genomic Profiling for Patients With Metastatic Breast Cancer

NCT01919749
View directory record Official record
Conditions
Metastatic Breast Cancer
Interventions
treated recommended
Other
Lead sponsor
Translational Drug Development
Other
Eligibility
18 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
2
States / cities
Scottsdale, Arizona • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Mar 28, 2023 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

Genetics of COVID-19 Susceptibility and Manifestations

NCT04371432
View directory record Official record
Conditions
COVID-19, Coronavirus 2019
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 110 Years
Enrollment
721 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 21, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

A Study of Consent Forms for Whole Exome and Whole Genome Sequencing

NCT01927770
View directory record Official record
Conditions
Whole Genome Sequencing
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
212 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 10, 2021 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

Biomarkers in Tissue Samples From Young Patients With Liver Cancer

NCT01336881
View directory record Official record
Conditions
Childhood Hepatoblastoma, Stage I Childhood Liver Cancer, Stage II Childhood Liver Cancer, Stage III Childhood Liver Cancer, Stage IV Childhood Liver Cancer
Interventions
RNA analysis, gene expression analysis, microarray analysis, nucleic acid sequencing, diagnostic laboratory biomarker analysis
Genetic · Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Up to 16 Years
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2011
U.S. locations
1
States / cities
Monrovia, California
Source: ClinicalTrials.gov public record
Updated May 18, 2016 · Synced Oct 23, 2026, 12:39 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

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

NCT05045222
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 20, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Recruiting No phase listed Observational

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

NCT02077894
View directory record Official record
Conditions
Genetic Eye Disease
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

NCT02927158
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Mar 10, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Recruiting No phase listed Observational

Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Congestive Heart Failure Receiving Therapy for Breast Cancer

NCT02610426
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Mar 27, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Not yet recruiting No phase listed Observational

Genetic Investigation of Cancer Predisposition

NCT04620278
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 6, 2026 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

Whole-Exome Sequencing (WES) of Cancer Patients

NCT02127359
View directory record Official record
Conditions
Lung Adenocarcinoma, Colon Adenocarcinoma
Interventions
Not listed
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
244 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 10, 2021 · Synced Oct 23, 2026, 12:39 PM EDT
Completed No phase listed Observational

Comprehensive Genomic Analysis in Tissue and Blood Samples From Young Patients With Lung Cancer

NCT02273336
View directory record Official record
Conditions
Non-small Cell Lung Cancer, Small Cell Lung Cancer
Interventions
cytology specimen collection procedure, laboratory biomarker analysis
Other
Lead sponsor
University of Southern California
Other
Eligibility
Up to 39 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
2
States / cities
Los Angeles, California • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 18, 2021 · Synced Oct 23, 2026, 12:39 PM EDT
Active, not recruiting No phase listed Observational

Novel Antineuronal Antibodies in Gastrointestinal Motility Disorders

NCT04872439
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Oct 23, 2026, 12:39 PM EDT