Independent directory Public ClinicalTrials.gov records United States
Clear filters
ClinicalTrials.gov public records Last synced Sep 26, 2026, 11:22 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 81 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Conditions
Acute Lymphoblastic Leukemia
Interventions
ChromoSeq® assay testing
Device
Lead sponsor
Washington University School of Medicine
Other
Eligibility
Up to 30 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
St Louis, Missouri
Terminated No phase listed Observational Accepts healthy volunteers

Malignant Hyperthermia Registry and Genetic Testing

NCT02964481
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
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
Completed Not applicable Interventional Results available

Clinical Utility of Prenatal Whole Exome Sequencing

NCT03482141
Conditions
Structural Anomalies, Cardiac Anomalies, Central Nervous System Anomalies, Thorax Anomalies, Genito-urinary Anomalies, Gastrointestinal Anomalies, Skeletal Anomalies, Multiple Anomalies
Interventions
Whole Exome Sequencing (WES)
Device
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 64 Years · Female only
Enrollment
316 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
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 Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
Conditions
Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions
Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
Genetic
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Hour to 5 Years
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Recruiting Not applicable Interventional Accepts healthy volunteers

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

NCT07102966
Conditions
Rare Diseases
Interventions
Rapid whole genome sequencing
Genetic
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Day to 90 Days
Enrollment
410 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Houston, Texas
Conditions
Adverse Drug Reaction (ADR), Polypharmacy Patients
Interventions
Not listed
Lead sponsor
Texas A&M University
Other
Eligibility
18 Years to 100 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
Bryan, Texas
Conditions
Rare Diseases
Interventions
clinical whole genome sequencing (cWGS)
Other
Lead sponsor
Illumina, Inc.
Industry
Eligibility
1 Day to 120 Days
Enrollment
355 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
5
States / cities
Orange, California • St Louis, Missouri • Omaha, Nebraska + 2 more
Conditions
COVID-19, Long Haul
Interventions
Ritonavir-Boosted Nirmatrelvir (Paxlovid), Physiological Evaluation, Moderna COVID-19 Vaccine, Biopsychological, Behavioral (e.g., Psychotherapy, Lifestyle Counseling), Genetic (including gene transfer, stem cell and recombinant DNA), Multidisciplinary approach
Drug · Diagnostic Test · Biological + 3 more
Lead sponsor
Well- Konnect Healthcare Services and Research Firm
Network
Eligibility
18 Years to 65 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
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
Conditions
Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Up to 18 Years
Enrollment
236 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Not listed No phase listed Observational Accepts healthy volunteers

Refining Information Technology Support for Genetics in Medicine

NCT01225978
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
Recruiting Not applicable Interventional

CHAMP Lung Cancer Screening Program

NCT07572773
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
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
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
Active, not recruiting No phase listed Observational

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

NCT03458962
Conditions
Genetic Disease, Genetic Syndrome
Interventions
Genetic Enrollees
Genetic
Lead sponsor
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Other
Eligibility
Up to 21 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2070
U.S. locations
1
States / cities
Miami, Florida
Recruiting Not applicable Interventional Accepts healthy volunteers

MicroRNAs as Biomarkers in First Episode Schizophrenia

NCT07703670
Conditions
Schizophrenia Disorder, Schizophreniform Disorder, Schizoaffective Disorder, Psychosis Not Otherwise Specified (NOS)
Interventions
Plasma NDE miRNA Sequencing, Whole Genome Sequencing
Diagnostic Test · Genetic
Lead sponsor
Northwell Health
Other
Eligibility
15 Years to 40 Years
Enrollment
160 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2031
U.S. locations
1
States / cities
Glen Oaks, New York
Active, not recruiting No phase listed Observational Accepts healthy volunteers

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

NCT07462234
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
Recruiting No phase listed Observational Accepts healthy volunteers

Helix Research Network

NCT06057181
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
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
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901
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
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
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