- Conditions
- Solid Tumor, Unspecified, Adult
- Interventions
- Determination of ATM alteration status.
- Other
- Lead sponsor
- Artios Pharma Ltd
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 229 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2022
- U.S. locations
- 2
- States / cities
- Oklahoma City, Oklahoma • Nashville, Tennessee
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- Conditions
- PML, AIDS
- Interventions
- Not listed
- Lead sponsor
- National Cancer Institute (NCI)
- NIH
- Eligibility
- Not listed
- Enrollment
- 450 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- Started 2005
- U.S. locations
- 6
- States / cities
- Los Angeles, California • Chicago, Illinois • Baltimore, Maryland + 1 more
- 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
- Neoplasms, Germ Cell and Embryonal
- Interventions
- Next generation genome sequencing
- Genetic
- Lead sponsor
- Nasser Hanna
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 6 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2017
- U.S. locations
- 2
- States / cities
- Indianapolis, Indiana
- 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
- 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
- Adenocarcinoma, Adenocystic Carcinoma, Anal Cancer, Appendix Cancer, Brain Tumor, Glioblastoma, Astrocytoma, Bile Duct Cancer, Cholangiocarcinoma, Bladder Cancer, Bone Cancer, Synovial Sarcoma, Chondrosarcoma, Liposarcoma, Sarcoma, Kaposi, Sarcoma,Soft Tissue, Sarcoma, Osteosarcoma, CNS Cancer, Brain Stem Neoplasms, Breast Cancer, Cervical Cancer, Colorectal Cancer, Rectal Cancer, Colon Cancer, Esophageal Cancer, Esophagus Cancer, Cancer of Colon, Pancreatic Cancer, Cancer of Pancreas, Testis Cancer, Testicular Cancer, Ureter Cancer, Renal Cell Carcinoma, Kidney Cancer, Gestational Trophoblastic Tumor, Head and Neck Neoplasms, Parotid Tumor, Larynx Cancer, Tongue Cancer, Pharynx Cancer, Salivary Gland Cancer, Acute Myeloid Leukemia, Chronic Myeloid Leukemia, Acute Lymphoblastic Leukemia, Multiple Myeloma, Non Hodgkin Lymphoma, Carcinoid Tumor, Lung Cancer, Neuroendocrine Tumors, Mesothelioma, Thyroid Cancer, Parathyroid Neoplasms, Adrenal Cancer, Small Bowel Cancer, Stomach Cancer, Liver Cancer, Hepatic Cancer, Melanoma, Skin Cancer, Unknown Primary Tumors, Uterine Cancer, Fallopian Tube Cancer, Ovarian Cancer, Prostate Cancer, Vaginal Cancer, Penile Cancer, Vulvar Cancer, Waldenstrom Macroglobulinemia, Cancer, Advanced, Thymus Cancer, Nasopharyngeal Carcinoma, Multiple Endocrine Neoplasia, Pheochromocytoma, Small Cell Carcinoma, Pulmonary Carcinoma
- Interventions
- Biomarker Testing (L), Systemic Treatment (T), Patient Reported Outcomes (P)
- Diagnostic Test · Drug · Other
- Lead sponsor
- Taproot Health
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 167 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2024
- U.S. locations
- 2
- States / cities
- Idaho Falls, Idaho • Laredo, Texas
- Conditions
- Congenital Heart Disease
- Interventions
- Blood Sample Collection
- Other
- Lead sponsor
- Nationwide Children's Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 5,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2009 – 2030
- U.S. locations
- 1
- States / cities
- Columbus, Ohio
- 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
- 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
- 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
- Diseases/Diagnoses, Genetic Disease
- Interventions
- Rapid whole genome sequencing (StatSeq)
- Other
- Lead sponsor
- Children's Mercy Hospital Kansas City
- Other
- Eligibility
- Up to 4 Months
- Enrollment
- 65 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2016
- U.S. locations
- 1
- States / cities
- Kansas City, Missouri
- Conditions
- Hemoglobinopathies, Hemolysis, Iron Deficiency and Overload, Anemias
- Interventions
- Not listed
- Lead sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- NIH
- Eligibility
- 1 Year and older
- Enrollment
- 334 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2005 – 2017
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
- Interventions
- Pre-visit prep, usual care + exome seq
- Behavioral · Diagnostic Test
- Lead sponsor
- University of North Carolina, Chapel Hill
- Other
- Eligibility
- 0 Years and older
- Enrollment
- 548 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2024
- U.S. locations
- 3
- States / cities
- Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
- Conditions
- Cluster Detection
- Interventions
- Routine cluster detection, Enhanced cluster detection
- Other
- Lead sponsor
- Harvard Pilgrim Health Care
- Other
- Eligibility
- Not listed
- Enrollment
- 2,905,455 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2024
- U.S. locations
- 82
- States / cities
- Riverside, California • San Jose, California • Thousand Oaks, California + 64 more
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
- Interventions
- Not listed
- Lead sponsor
- Sequenom, Inc.
- Industry
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2015
- U.S. locations
- 1
- States / cities
- Denver, Colorado
- 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
- 25,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2026
- U.S. locations
- 54
- States / cities
- Birmingham, Alabama • Chandler, Arizona • Phoenix, Arizona + 43 more
- Conditions
- Infertility, Aneuploidy
- Interventions
- Preimplantation Genetic Screening by NGS
- Other
- Lead sponsor
- Illumina, Inc.
- Industry
- Eligibility
- 25 Years to 40 Years · Female only
- Enrollment
- 661 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2016
- U.S. locations
- 28
- States / cities
- Tempe, Arizona • Encino, California • Laguna Niguel, California + 24 more
- Conditions
- Infertility, Female, Infertility, Male, Infertility, IVF, Aneuploidy
- Interventions
- Timelapse incubation and PGT
- Diagnostic Test
- Lead sponsor
- Gattaca Genomics
- Industry
- Eligibility
- 18 Years to 50 Years
- Enrollment
- 2,000 participants
- Timeline
- 2025 – 2033
- U.S. locations
- 1
- States / cities
- Fort Lauderdale, Florida
- Conditions
- Immune Disorders
- Interventions
- Not listed
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
- NIH
- Eligibility
- Not listed
- Enrollment
- 139 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2019
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Solid, Liquid, Central Nervous System Tumors
- Interventions
- Study Introduction Visit, Informed Consent Visit, Informed Consent Follow-Up Visit, Return of Results Conversation, Return of Results Follow-Up Visits, Blood Sample, Skin Biopsy
- Other · Procedure
- Lead sponsor
- St. Jude Children's Research Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 2,500 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2053
- U.S. locations
- 1
- States / cities
- Memphis, Tennessee
- Conditions
- Short Stature, Growth Disorder, Syndromic Growth Disorder, Tall Stature
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- Not listed
- Enrollment
- 334 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2014 – 2023
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Hypertrophic Cardiomyopathy, Genetic Disease, Gene Product Sequence Variation
- Interventions
- Genomic sequencing
- Genetic
- Lead sponsor
- The Cleveland Clinic
- Other
- Eligibility
- 18 Years to 100 Years
- Enrollment
- 25 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2022
- U.S. locations
- 1
- States / cities
- Cleveland, Ohio
- 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