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ClinicalTrials.gov public records Last synced Sep 28, 2026, 10:57 AM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Whole Genome Sequencing Clear all
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 9, 2026 · Synced Sep 28, 2026, 10:57 AM EDT
Completed Not applicable Interventional Results available

Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)

NCT03890679
View directory record Official record
Conditions
Pediatric: Genetic Syndrome
Interventions
rapid whole genomic sequencing (rWGS)
Diagnostic Test
Lead sponsor
Tufts Medical Center
Other
Eligibility
1 Day to 1 Year
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
6
States / cities
San Diego, California • Boston, Massachusetts • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 5, 2025 · Synced Sep 28, 2026, 10:57 AM 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 22, 2026 · Synced Sep 28, 2026, 10:57 AM 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
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 6, 2026 · Synced Sep 28, 2026, 10:57 AM 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 16, 2019 · Synced Sep 28, 2026, 10:57 AM 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 13, 2026 · Synced Sep 28, 2026, 10:57 AM EDT
Completed Not applicable Interventional

NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children

NCT03738098
View directory record Official record
Conditions
Genetic Diseases, Inborn, Genetic Predisposition to Disease
Interventions
Standard of Care, GUÍA
Behavioral
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
Up to 21 Years
Enrollment
650 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
New York, New York • The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Dec 12, 2023 · Synced Sep 28, 2026, 10:57 AM EDT
Completed Not applicable Interventional

Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder

NCT03829176
View directory record Official record
Conditions
Hereditary Disease, Genetic Predisposition to Disease
Interventions
Whole Genome Sequencing
Genetic
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
3 Months and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 17, 2020 · Synced Sep 28, 2026, 10:57 AM 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 10, 2024 · Synced Sep 28, 2026, 10:57 AM 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 6, 2022 · Synced Sep 28, 2026, 10:57 AM EDT
Enrolling by invitation No phase listed Observational

UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults

NCT07718971
View directory record Official record
Conditions
Hereditary Diseases, Critical Illness
Interventions
Genome sequencing
Genetic
Lead sponsor
University of Washington
Other
Eligibility
18 Years to 50 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2032
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jul 21, 2026 · Synced Sep 28, 2026, 10:57 AM 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 13, 2021 · Synced Sep 28, 2026, 10:57 AM 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 13, 2026 · Synced Sep 28, 2026, 10:57 AM EDT
Completed No phase listed Observational

United States Hypophosphatasia Molecular Research Center

NCT05062629
View directory record Official record
Conditions
Hypophosphatasia
Interventions
Whole Genome Sequencing
Genetic
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
Not listed
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated May 18, 2026 · Synced Sep 28, 2026, 10:57 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Health eHeart BioBank

NCT06976502
View directory record Official record
Conditions
Heart Diseases, Cardiac Diseases, Vascular Diseases, Cardiovascular Diseases
Interventions
Blood Draw, Tissue Collection, DNA Collection, Medical Chart Review
Procedure · Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years and older
Enrollment
500,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2035
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Sep 28, 2026, 10:57 AM EDT
Terminated Phase 2 Interventional Results available

Trial of Open Label Dipyridamole- In Hospitalized Patients With COVID-19

NCT04424901
View directory record Official record
Conditions
COVID-19 Pneumonia, Vascular Complications
Interventions
Placebo, Dipyridamole Tablets
Drug
Lead sponsor
UConn Health
Other
Eligibility
18 Years and older
Enrollment
41 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Farmington, Connecticut
Source: ClinicalTrials.gov public record
Updated Apr 20, 2023 · Synced Sep 28, 2026, 10:57 AM EDT
Withdrawn No phase listed Observational

PUER ("Previously Unrecognized Emerging Risks") Life Clinical Study (PUER) in Ages 6 Through 18

NCT06802029
View directory record Official record
Conditions
Aging
Interventions
Whole Genome Sequencing Analysis
Genetic
Lead sponsor
Puer Research, LLC
Network
Eligibility
6 Years to 18 Years
Timeline
2025 – 2026
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Sep 28, 2026, 10:57 AM 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 9, 2021 · Synced Sep 28, 2026, 10:57 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Rapid Whole Genome Sequencing Study

NCT03385876
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome
Interventions
Genomic sequencing and molecular diagnostic results, if any
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2050
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Dec 22, 2021 · Synced Sep 28, 2026, 10:57 AM 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 26, 2020 · Synced Sep 28, 2026, 10:57 AM EDT
Not listed No phase listed Observational

Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

NCT03918707
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome
Interventions
Rapid Whole Genome Sequencing (rWGS)
Diagnostic Test
Lead sponsor
University of Illinois College of Medicine at Peoria
Other
Eligibility
0 Months to 4 Months
Enrollment
115 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
Peoria, Illinois
Source: ClinicalTrials.gov public record
Updated May 26, 2021 · Synced Sep 28, 2026, 10:57 AM 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 20, 2026 · Synced Sep 28, 2026, 10:57 AM EDT
Active, not recruiting No phase listed Observational

Genetic Overlap Between Anomalies and Cancer in Kids in the Children's Oncology Group: The COG GOBACK Study

NCT05071859
View directory record Official record
Conditions
Congenital Anomaly, Pediatric Cancer
Interventions
Whole Genome Sequencing, Questionnaire Administration, Biospecimen collection, Laboratory Biomarker Analysis
Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
0 Years and older
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Sep 28, 2026, 10:57 AM 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 7, 2026 · Synced Sep 28, 2026, 10:57 AM EDT