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ClinicalTrials.gov public records Last synced Oct 20, 2026, 11:13 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 1–24 of 98 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Whole genome sequencing Clear all
Terminated No phase listed Observational Results available

Collecting and Studying Tissue Samples From Patients With HIV-Associated Malignancies

NCT01567722
View directory record Official record
Conditions
Lung Cancer, Lymphoma
Interventions
DNA analysis, RNA analysis, gene expression analysis, polymorphism analysis, biologic sample preservation procedure, flow cytometry, medical chart review
Genetic · Other
Lead sponsor
AIDS Malignancy Consortium
Network
Eligibility
18 Years and older
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2022
U.S. locations
14
States / cities
La Jolla, California • Los Angeles, California • Washington D.C., District of Columbia + 9 more
Source: ClinicalTrials.gov public record
Updated Mar 16, 2023 · Synced Oct 20, 2026, 11:13 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901
View directory record Official record
Conditions
Genetic Disorders
Interventions
Whole Genome Sequencing, Carrier status testing
Genetic
Lead sponsor
Kaiser Permanente
Other
Eligibility
21 Years to 50 Years
Enrollment
384 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 17, 2019 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting No phase listed Observational

Mental Health Crises in Youth With IDDs

NCT05471232
View directory record Official record
Conditions
Intellectual Disability
Interventions
Genomic sequencing and molecular diagnostic results, if any., EHR-Based Network Model
Genetic · Other
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
7 Years to 17 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Aug 9, 2024 · Synced Oct 20, 2026, 11:13 PM EDT
Not listed No phase listed Observational

Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services

NCT06082999
View directory record Official record
Conditions
Epilepsy
Interventions
Not listed
Lead sponsor
Great Ormond Street Hospital for Children NHS Foundation Trust
Other
Eligibility
Up to 12 Months
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 13, 2023 · Synced Oct 20, 2026, 11:13 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Continuous N-of-1 Computational Feasibility Study of a Whole Genome Sequence

NCT07462234
View directory record Official record
Conditions
Computational Modeling of Individual Metabolic Pathways
Interventions
Not listed
Lead sponsor
Bioactify LLC
Other
Eligibility
Female only
Enrollment
1 participant
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2027
U.S. locations
1
States / cities
Wappingers Falls, New York
Source: ClinicalTrials.gov public record
Updated Mar 10, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting Not applicable Interventional

Individualized Treatment Plan in Children and Young Adults With Relapsed Medulloblastoma and Ependymoma

NCT05057702
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 11, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting Not applicable Interventional

CHAMP Lung Cancer Screening Program

NCT07572773
View directory record Official record
Conditions
Lung Cancer, Early Lung Cancer Detection
Interventions
DELFI Diagnostics FirstLook Lung Cancer Screening Blood Test, Low-Does CT Scan
Diagnostic Test
Lead sponsor
Jill Kolesar
Other
Eligibility
50 Years to 77 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
3
States / cities
Iowa City, Iowa • Waterloo, Iowa
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Study of ALS Reversals 2: Genetic Analyses

NCT03464903
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy
Interventions
Not listed
Lead sponsor
Duke University
Other
Eligibility
Not listed
Enrollment
26 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2023
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 11, 2024 · Synced Oct 20, 2026, 11:13 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 20, 2026, 11:13 PM EDT
Enrolling by invitation No phase listed Observational

Prospective Healthcare-Associated Links in Transmission of Nontuberculous Mycobacteria

NCT05686837
View directory record Official record
Conditions
Cystic Fibrosis, Nontuberculous Mycobacterial Pulmonary Infection
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Month to 99 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
7
States / cities
Denver, Colorado • Baltimore, Maryland • Austin, Texas + 4 more
Source: ClinicalTrials.gov public record
Updated Oct 20, 2025 · Synced Oct 20, 2026, 11:13 PM EDT
Not listed No phase listed Observational

Assessment of the TGF-beta Pathway and Micro-RNA in Pediatric Pulmonary Arterial Hypertension

NCT04489251
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Nov 22, 2021 · Synced Oct 20, 2026, 11:13 PM EDT
Completed Not applicable Interventional Results available

Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts

NCT04196374
View directory record Official record
Conditions
Seemingly Healthy, Genetic Predisposition to Disease
Interventions
Genomic Sequencing
Genetic
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 100 Years
Enrollment
7,603 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
2
States / cities
Framingham, Massachusetts • Jackson, Mississippi
Source: ClinicalTrials.gov public record
Updated Aug 3, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting No phase listed Observational

UW Undiagnosed Genetic Diseases Program

NCT04586075
View directory record Official record
Conditions
Rare Diseases, Genetic Disease, Undiagnosed Disease
Interventions
Trio Whole Genome Sequencing and Participant-Specific Research
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
Up to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated May 29, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Completed No phase listed Observational

An Ancillary Pilot Trial Using Whole Genome Sequencing In Patients With Advance Refractory Cancer

NCT01443390
View directory record Official record
Conditions
Advanced Cancer
Interventions
Not listed
Lead sponsor
Scottsdale Healthcare
Other
Eligibility
18 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
1
States / cities
Scottsdale, Arizona
Source: ClinicalTrials.gov public record
Updated May 14, 2014 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting Not applicable Interventional

A Synthetic Lethality-Focused Algorithm to Identify Therapeutic Options in Advanced Metastatic Breast Cancer (SYNTHESIS-Breast)

NCT07067138
View directory record Official record
Conditions
Breast Cancer, Breast Carcinoma, Cancer of the Breast, Malignant Neoplasm of Breast
Interventions
Expression Networks for highLIGHting Tumor vulnerabilities (ENLIGHT), TruSight(R) Oncology 500, TruSeq Matched Tumor Normal Whole Exome Sequencing Assay
Device
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 120 Years
Enrollment
175 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 21, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Completed Not applicable Interventional

UC-GENOME: Urothelial Cancer-GENOmic Analysis to iMprove Patient Outcomes and rEsearch

NCT02643043
View directory record Official record
Conditions
Urothelial Carcinoma, Bladder Cancer, Urethral Cancer, Cancer of the Ureter
Interventions
Biospecimen Collection
Other
Lead sponsor
Matthew Milowsky, MD
Other
Eligibility
18 Years and older
Enrollment
219 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
8
States / cities
Los Angeles, California • Chicago, Illinois • Baltimore, Maryland + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 29, 2023 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

The CurePSP Genetics Program

NCT06647641
View directory record Official record
Conditions
PSP, PSP - Progressive Supranuclear Palsy, Corticobasal Syndrome, Corticobasal Syndrome(CBS), Corticobasal Degeneration Syndrome, Corticobasal Degeneration, Corticobasal Degeneration (CBD), Corticobasal Syndrome (CBS), MSA, MSA - Multiple System Atrophy, MSA-C, Multiple System Atrophy, Multiple System Atrophy (MSA) With Orthostatic Hypotension, Multiple System Atrophy - Cerebellar Subtype (MSA-C), Multiple System Atrophy - Parkinsonian Subtype (MSA-P), Multiple System Atrophy, Cerebellar Type, Multiple System Atrophy, Parkinsonian Type, Progressive Supranuclear Palsy, Progressive Supranuclear Palsy(PSP), Progressive Supranuclear Palsy (PSP)
Interventions
Whole genome sequencing will be performed at the NIH
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
35 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 14, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Not listed No phase listed Observational

Genetic Mechanisms Underlying SARS-CoV-2 Infection and the Impact of COVID-19 on Cognitive Function

NCT04506229
View directory record Official record
Conditions
Covid19
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Texas Cardiac Arrhythmia Research Foundation
Other
Eligibility
18 Years and older
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Aug 27, 2020 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting No phase listed Observational

Genomic Profiling in Cancer Patients

NCT01775072
View directory record Official record
Conditions
Solid Tumors, Hematologic Cancers
Interventions
molecular profiling of tumors, Clinical Germline Analysis
Genetic
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2027
U.S. locations
18
States / cities
Bridgeport, Connecticut • Hartford, Connecticut • Norwalk, Connecticut + 13 more
Source: ClinicalTrials.gov public record
Updated Sep 24, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Helix Research Network

NCT06057181
View directory record Official record
Conditions
Genetic Predisposition to Disease, Genetics Disease
Interventions
Exome sequencing
Genetic
Lead sponsor
Helix, Inc
Industry
Eligibility
18 Years and older
Enrollment
2,000,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2036
U.S. locations
14
States / cities
Fort Wayne, Indiana • Bloomington, Minnesota • Omaha, Nebraska + 11 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Active, not recruiting Phase 3 Interventional

A Study to Evaluate Efficacy and Safety of Giredestrant Compared With Fulvestrant (Plus a CDK4/6 Inhibitor), in Participants With ER-Positive, HER2-Negative Advanced Breast Cancer Resistant to Adjuvant Endocrine Therapy (pionERA Breast Cancer)

NCT06065748
View directory record Official record
Conditions
Estrogen Receptor-Positive, HER2-Negative Advanced Breast Cancer
Interventions
Giredestrant, Fulvestrant, Abemaciclib, Palbociclib, Ribociclib, LHRH Agonist, FoundationOne Liquid CDx Assay (F1LCDx)
Drug · Diagnostic Test
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
18 Years and older
Enrollment
1,050 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2029
U.S. locations
40
States / cities
Daphne, Alabama • Greenbrae, California • Harbor City, California + 34 more
Source: ClinicalTrials.gov public record
Updated Sep 14, 2026 · Synced Oct 20, 2026, 11:13 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Refining Information Technology Support for Genetics in Medicine

NCT01225978
View directory record Official record
Conditions
Hypertrophic Cardiomyopathy, Hearing Loss, Cancer
Interventions
GeneInsight Clinic (GIC)
Device
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
Not listed
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2014
U.S. locations
8
States / cities
Boston, Massachusetts • Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jan 24, 2014 · Synced Oct 20, 2026, 11:13 PM EDT
Recruiting Not applicable Interventional

Ultra-Rapid Profiling and Drug Screening for Treatment Selection in Patients With Relapsed or Recurrent Rare Brain Tumors

NCT07851636
View directory record Official record
Conditions
Rare CNS Tumor, FOXR2-activated, BCOR ITD Sarcoma, CNS Sarcoma, PLAG-altered Tumors, Mesenchymal Tumor
Interventions
Personalized Treatment Recommendation
Other
Lead sponsor
Adriana Fonseca
Other
Eligibility
Up to 45 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2032
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 20, 2026, 11:13 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 20, 2026, 11:13 PM EDT