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ClinicalTrials.gov public records Last synced Oct 22, 2026, 2:19 PM EDT

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Showing 73–96 of 196 matching trials from the live ClinicalTrials.gov search.
Filters: Intervention: Genome sequencing Clear all
Not listed No phase listed Observational

Imaging and Omics for Cardiovascular Risk During NASA Deep Space Missions

NCT02465554
View directory record Official record
Conditions
Coronary Artery Disease
Interventions
Myocardial contrast echocardiography
Procedure
Lead sponsor
Oregon Health and Science University
Other
Eligibility
35 Years to 55 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jan 12, 2018 · Synced Oct 22, 2026, 2:19 PM EDT
Recruiting No phase listed Observational

Genomic Profiling in Recommending Treatment for Patients With Metastatic Solid Tumors

NCT02215928
View directory record Official record
Conditions
Unspecified Adult Solid Tumor, Protocol Specific
Interventions
mutation analysis, cytology specimen collection procedure, laboratory biomarker analysis
Genetic · Other
Lead sponsor
Stanford University
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2026
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Dec 24, 2025 · Synced Oct 22, 2026, 2:19 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 22, 2026, 2:19 PM EDT
Enrolling by invitation No phase listed Observational

Reverse Phenotyping Core

NCT03632239
View directory record Official record
Conditions
Harboring of Unexpected Genetic Variant
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
4 Years to 120 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2099
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 22, 2026, 2:19 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 22, 2026, 2:19 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Prenatal Genetic Diagnosis by Genomic Sequencing

NCT03936101
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Oct 27, 2025 · Synced Oct 22, 2026, 2:19 PM EDT
Recruiting No phase listed Observational

INTERogating Cancer for Etiology, Prevention and Therapy Navigation

NCT06008392
View directory record Official record
Conditions
Cancer, Cancer Gene Mutation, PAN Gene Mutation, Hematopoietic and Lymphoid System Neoplasm, Malignant Solid Neoplasm
Interventions
Pan-genomic Testing
Genetic
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2033
U.S. locations
5
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 22, 2026, 2:19 PM EDT
Completed No phase listed Observational

Etiology of Eczema Herpeticum (EH)

NCT03038932
View directory record Official record
Conditions
Eczema Herpeticum
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Years to 64 Years
Enrollment
69 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 14, 2021 · Synced Oct 22, 2026, 2:19 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Malignant Hyperthermia Registry and Genetic Testing

NCT02964481
View directory record Official record
Conditions
Malignant Hyperthermia
Interventions
Whole exome sequencing
Genetic
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
64 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2017
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 3, 2020 · Synced Oct 22, 2026, 2:19 PM EDT
Recruiting No phase listed Observational

Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

NCT04770519
View directory record Official record
Conditions
Strabismus, Nystagmus, Congenital
Interventions
whole genome sequencing or whole exome sequencing
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 12, 2025 · Synced Oct 22, 2026, 2:19 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 22, 2026, 2:19 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

guideSEQ: Genomic Understanding, Impact, Decision & Ethics in Prenatal Sequencing

NCT07610590
View directory record Official record
Conditions
Prenatal Genetic Diagnosis
Interventions
Genome Sequencing (GS)
Genetic
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,042 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2029
U.S. locations
3
States / cities
Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 15, 2026 · Synced Oct 22, 2026, 2:19 PM EDT
Terminated Not applicable Interventional

Next-generation Sequencing of Small Cell Lung Cancer to Identify Actionable Targets for Treatment

NCT02297087
View directory record Official record
Conditions
Small Cell Lung Cancer
Interventions
Standard of care based on target(s) identified via GWS.
Genetic
Lead sponsor
Western Regional Medical Center
Other
Eligibility
18 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
1
States / cities
Goodyear, Arizona
Source: ClinicalTrials.gov public record
Updated Nov 9, 2017 · Synced Oct 22, 2026, 2:19 PM EDT
Completed No phase listed Observational

Whole Genome Sequencing in the Neonatal Intensive Care Unit

NCT03721458
View directory record Official record
Conditions
Genetic Diseases, Inborn
Interventions
Sequence
Other
Lead sponsor
Milton S. Hershey Medical Center
Other
Eligibility
1 Day and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Hershey, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 1, 2021 · Synced Oct 22, 2026, 2:19 PM EDT
Recruiting Not applicable Interventional

PROGRESS: Precision Oncology Using Genomic Reflexive Evaluations for Study Selection and Survival

NCT06896162
View directory record Official record
Conditions
Solid Tumor Malignancies, Metastatic Cancer, Breast Cancer, Colorectal Cancer, Lung Cancer, Bladder Cancer
Interventions
Expert Review, Blood or tissue samples collection., The Precision Oncology Navigation
Other
Lead sponsor
UNC Lineberger Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 22, 2026, 2:19 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 22, 2026, 2:19 PM EDT
Not listed Not applicable Interventional Results available

Perinatal Precision Medicine

NCT03211039
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Mar 1, 2024 · Synced Oct 22, 2026, 2:19 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 22, 2026, 2:19 PM EDT
Recruiting Phase 1Phase 2 Interventional

A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis

NCT03952637
View directory record Official record
Conditions
Lysosomal Diseases, Gangliosidosis, GM1
Interventions
AAV9-GLB1, Abdominal ultrasound, Rituximab, Sirolimus, Methylprednisolone, Prednisone, Audiology assessment with ABR, Bone density scan (DEXA), Electrocardiogram (EKG), Echocardiogram, Electroencephalogram (EEG) awake and extended overnight, Laboratory tests, Lumbar puncture, Brain MRI/MRS/fMRI, Neurocognitive testing, Neurology exam, PICC or other Central line placement, Skeletal survey, Skin biopsy, Speech and modified barium swallow study, Ophthalmology exam
Biological · Procedure · Drug + 3 more
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
6 Months to 12 Years
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Oct 22, 2026, 2:19 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 22, 2026, 2:19 PM EDT
Completed Phase 2 Interventional Results available

Study of Ibrutinib in Patients With Symptomatic, Previously Untreated Waldenstrom's Macroglobulinemia, and Impact on Tumor Genomic Evolution Using Whole Genome Sequencing

NCT02604511
View directory record Official record
Conditions
Waldenstrom's Macroglobulinemia
Interventions
Ibrutinib
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
18 Years and older
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 7, 2022 · Synced Oct 22, 2026, 2:19 PM EDT
Recruiting No phase listed Observational

Parkinson's Foundation PD GENEration Genetic Registry

NCT04994015
View directory record Official record
Conditions
Parkinson's Disease
Interventions
Lab Assay for seven genetic variants for Parkinson's Disease
Device
Lead sponsor
Parkinson's Foundation
Other
Eligibility
18 Years and older
Enrollment
35,382 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2027
U.S. locations
63
States / cities
Birmingham, Alabama • Chandler, Arizona • Phoenix, Arizona + 50 more
Source: ClinicalTrials.gov public record
Updated Sep 8, 2026 · Synced Oct 22, 2026, 2:19 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

NCT06306521
View directory record Official record
Conditions
Genetic Disease
Interventions
BeginNGS Test
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 28 Days
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2029
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 12, 2024 · Synced Oct 22, 2026, 2:19 PM EDT
Completed No phase listed Observational

Gene Expression in Patients With Metastatic Prostate Cancer Receiving CYP-17 Inhibition Therapy

NCT01953640
View directory record Official record
Conditions
Hormone-Resistant Prostate Cancer, Metastatic Prostate Carcinoma, Prostate Adenocarcinoma, Recurrent Prostate Carcinoma
Interventions
Laboratory Biomarker Analysis, Quality-of-Life Assessment
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older · Male only
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Aug 14, 2026 · Synced Oct 22, 2026, 2:19 PM EDT