- Conditions
- Sickle Cell Disease
- Interventions
- Music Therapy, Standard of Care
- Other
- Lead sponsor
- Emory University
- Other
- Eligibility
- 8 Years to 18 Years
- Enrollment
- 25 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2028
- U.S. locations
- 1
- States / cities
- Atlanta, Georgia
Search Results
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Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results are retrieved from ClinicalTrials.gov and synchronized into the directory. Search pages remain noindex by default.
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Showing 1–24
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- 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
- Acute Lymphoblastic Leukemia (ALL)
- Interventions
- Not listed
- Lead sponsor
- St. Jude Children's Research Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 4 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017
- U.S. locations
- 1
- States / cities
- Memphis, Tennessee
- Conditions
- Arterial Calcification Due to Deficiency of CD73
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 1 Month to 115 Years
- Enrollment
- 4,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- Started 1978
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- 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
- Cholangiocarcinoma, Multiple Myeloma, Colon Cancer, Rectal Cancer
- Interventions
- Return of Genetic Results: Biomarker information from cancer cells, Return of Genetic Results: Inherited mutations related to cancer, Return of Genetic Results: Inherited mutations related to other medical issues
- Other
- Lead sponsor
- Washington University School of Medicine
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 990 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2027
- U.S. locations
- 1
- States / cities
- St Louis, Missouri
- Conditions
- Cardiovascular Phenotype, Metabolic Phenotype, Hypertensive Disease, Psychological Phenotype, Audio
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 18 Years to 99 Years · Female only
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2025
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- 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
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
- Interventions
- Confirmatory Testing
- Diagnostic Test
- Lead sponsor
- RTI International
- Other
- Eligibility
- 1 Day to 31 Days
- Enrollment
- 30,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2018 – 2026
- U.S. locations
- 1
- States / cities
- Research Triangle Park, North Carolina
- Conditions
- COVID-19, Vaccine Adverse Reaction, Vaccine Reaction, Vaccine or Biological Substance, Unspecified Causing Adverse Effects in Therapeutic Use, Corona Virus Infection, Blood Clot, Thrombocytopenia, Neuritis, Vasculitis, Influenza, Guillain-Barré, GWAS, Genetic Sequencing
- Interventions
- vaccinated
- Biological
- Lead sponsor
- Neuroganics LLC
- Industry
- Eligibility
- 5 Years to 99 Years
- Enrollment
- 100,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2024
- U.S. locations
- 1
- States / cities
- Northglenn, Colorado
- Conditions
- Hypoxic Ischemic Encephalopathy of Newborn, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE)
- Interventions
- Genome sequencing
- Genetic
- Lead sponsor
- Baylor College of Medicine
- Other
- Eligibility
- 0 Days to 1 Year
- Enrollment
- 25 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 1
- States / cities
- Houston, Texas
- 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 – 2028
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- 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
- 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
- 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
- Conditions
- Cystic Fibrosis
- Interventions
- Throat Swab
- Procedure
- Lead sponsor
- Tufts Medical Center
- Other
- Eligibility
- 1 Day to 3 Months
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2011
- U.S. locations
- 2
- States / cities
- Boston, Massachusetts
- 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
- 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
- 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
- Conditions
- COVID-19, Coronavirus 2019
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 1 Month to 110 Years
- Enrollment
- 721 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2024
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Healthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
- Interventions
- Family History + Whole Genome Sequencing, Family History Only
- Other
- Lead sponsor
- Brigham and Women's Hospital
- Other
- Eligibility
- 18 Years to 90 Years
- Enrollment
- 213 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2011 – 2021
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Myotubular Myopathy
- Interventions
- Genetic Testing
- Other
- Lead sponsor
- Cure CMD
- Other
- Eligibility
- 30 Days and older
- Enrollment
- 23 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2017
- U.S. locations
- 1
- States / cities
- Torrance, California
- 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
- Conditions
- Acid Base Disorder
- Interventions
- Targeted genomic sequencing
- Diagnostic Test
- Lead sponsor
- Sharp HealthCare
- Other
- Eligibility
- 1 Day to 6 Months
- Enrollment
- 100 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 1
- States / cities
- San Diego, California