- 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
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Showing 1–24
of 81
matching trials from the live ClinicalTrials.gov search.
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- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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