- 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
Search Results
Search by objective public record fields.
Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results come from ClinicalTrials.gov. When the live registry is unavailable, a clearly labeled stored copy may be shown.
These results were retrieved from the live ClinicalTrials.gov registry. Filters and sort order apply to this result list.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Showing 121–144
of 193
matching trials from the live ClinicalTrials.gov search.
- 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
- 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
- Conditions
- Sickle Cell Disease, Sickle Cell Anemia (HbSS, or HbSβ-thalassemia0), Beta-Thalassemia, Transfusion Dependent Beta-Thalassaemia
- Interventions
- autologous bone marrow derived CD34+ HSPCs electroporated with BCL11A enhancer targeting Cas9 ribonucleoprotein, Sequencing Assay for Variant rs114518452
- Biological · Device
- Lead sponsor
- Daniel Bauer
- Other
- Eligibility
- 13 Years to 40 Years
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2030
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Lynch Syndrome, Colorectal Cancer
- Interventions
- LS tumor screening, Genetic testing, Genetic Counseling, Biorepository, Questionnaire
- Genetic · Behavioral · Other
- Lead sponsor
- Ohio State University Comprehensive Cancer Center
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 3,470 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2018
- U.S. locations
- 49
- States / cities
- Akron, Ohio • Barberton, Ohio • Batavia, Ohio + 29 more
- 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
- Rare Diseases, Autism or Autistic Traits, Development Delay, SYT-SSX Fusion Protein Expression, Sleep Disorder, Epilepsy, Generalized, Motor Delay
- Interventions
- Brain Magnetic Resonance Imaging (MRI), Whole Genome Sequencing, Induced Pluripotential Stem Cells
- Diagnostic Test · Genetic · Other
- Lead sponsor
- University of Missouri-Columbia
- Other
- Eligibility
- 0 Years to 99 Years
- Enrollment
- 50 participants
- Timeline
- 2024 – 2027
- U.S. locations
- 1
- States / cities
- Columbia, Missouri
- Conditions
- Kidney Diseases
- Interventions
- Renasight
- Diagnostic Test
- Lead sponsor
- Natera, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 1,720 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2025
- U.S. locations
- 31
- States / cities
- Anchorage, Alaska • Tucson, Arizona • Granada Hills, California + 23 more
- Conditions
- Pelvic Organ Prolapse
- Interventions
- Not listed
- Lead sponsor
- Atlantic Health System
- Other
- Eligibility
- Female only
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2015
- U.S. locations
- 1
- States / cities
- Morristown, New Jersey
- Conditions
- Alveolar Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma
- Interventions
- Biospecimen Collection, Laboratory Biomarker Analysis, Questionnaire Administration
- Procedure · Other
- Lead sponsor
- Children's Oncology Group
- Network
- Eligibility
- Up to 50 Years
- Enrollment
- 900 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2026
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Clear Cell Sarcoma of the Kidney, Recurrent Wilms Tumor and Other Childhood Kidney Tumors, Rhabdoid Tumor of the Kidney, Stage I Wilms Tumor, Stage II Wilms Tumor, Stage III Wilms Tumor, Stage IV Wilms Tumor, Stage V Wilms Tumor
- Interventions
- DNA methylation analysis, gene expression analysis, microarray analysis, reverse transcriptase-polymerase chain reaction, diagnostic laboratory biomarker analysis
- Genetic · Other
- Lead sponsor
- Children's Oncology Group
- Network
- Eligibility
- Up to 16 Years
- Enrollment
- 185 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2010
- U.S. locations
- 1
- States / cities
- Monrovia, California
- Conditions
- Malignant Pericardial Effusion, Malignant Pleural Effusion, Recurrent Non-small Cell Lung Cancer, Stage IIIB Non-small Cell Lung Cancer, Stage IV Non-small Cell Lung Cancer
- Interventions
- cytology specimen collection procedure, therapeutic procedure, targeted therapy, laboratory biomarker analysis
- Other · Procedure · Drug
- Lead sponsor
- Fox Chase Cancer Center
- Other
- Eligibility
- Not listed
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2016
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Phantom Limb
- Interventions
- Blood Draw
- Procedure
- Lead sponsor
- Henry M. Jackson Foundation for the Advancement of Military Medicine
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 726 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2012 – 2023
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- History of Cancer
- Interventions
- qualitative interviews
- Behavioral
- Lead sponsor
- Memorial Sloan Kettering Cancer Center
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 8 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2012 – 2018
- U.S. locations
- 1
- States / cities
- New York, New York
- Conditions
- Stage II Soft Tissue Sarcoma of the Trunk and Extremities AJCC v8, Stage III Soft Tissue Sarcoma of the Trunk and Extremities AJCC v8, Stage IIIA Soft Tissue Sarcoma of the Trunk and Extremities AJCC v8, Stage IIIB Soft Tissue Sarcoma of the Trunk and Extremities AJCC v8
- Interventions
- Chest Radiography, Computed Tomography, Follow-Up, Imaging Technique, Questionnaire Administration
- Procedure · Other
- Lead sponsor
- M.D. Anderson Cancer Center
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 227 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2027
- U.S. locations
- 1
- States / cities
- Houston, Texas
- Conditions
- Breast Carcinoma, Colon Carcinoma, Invasive Carcinoma, Kidney Carcinoma, Liver Carcinoma, Malignant Solid Neoplasm, Multiple Myeloma, Prostate Carcinoma
- Interventions
- Biospecimen Collection, Laboratory Biomarker Analysis
- Procedure · Other
- Lead sponsor
- National Cancer Institute (NCI)
- NIH
- Eligibility
- 18 Years and older
- Enrollment
- 2,400 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2026
- U.S. locations
- 1
- States / cities
- Rockville, Maryland
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 4 Weeks to 99 Years
- Enrollment
- 2,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2010
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- 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
- Pancreatitis, Diabetes Mellitus
- Interventions
- Research MRI without administration of intravenous secretin, Research MRI with administration of intravenous secretin, Genetic Sequencing, Blood Tests, Stool Tests, Survey Completion, Endoscopic pancreatic function tests (ePFTs), Secretin
- Diagnostic Test · Genetic · Other + 1 more
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Other
- Eligibility
- 5 Years to 21 Years
- Enrollment
- 195 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2023 – 2027
- U.S. locations
- 1
- States / cities
- Cincinnati, Ohio
- Conditions
- Glioblastoma, Glioblastoma Multiforme
- Interventions
- Sonobiopsy, Research blood, Cancer Personalized Profiling, Definity®
- Device · Procedure · Genetic
- Lead sponsor
- Washington University School of Medicine
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 40 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2028
- U.S. locations
- 1
- States / cities
- St Louis, Missouri
- Conditions
- Discordant Cancers
- Interventions
- WES via Illumina NextSeq 550 sequencing system, Blood Draw, Skin biopsy, Saliva Sample
- Genetic · Diagnostic Test
- Lead sponsor
- Case Comprehensive Cancer Center
- Other
- Eligibility
- 18 Years to 100 Years
- Enrollment
- 150 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2028
- U.S. locations
- 1
- States / cities
- Cleveland, Ohio
- Conditions
- Alpha-1 Antitrypsin Deficiency, Emphysema, COPD, Smoking
- Interventions
- Genetic Sequencing
- Genetic
- Lead sponsor
- Medical University of South Carolina
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 117 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2017
- U.S. locations
- 1
- States / cities
- Charleston, South Carolina
- 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
- Anaplastic Large Cell Lymphoma, Angioimmunoblastic T-cell Lymphoma, Hepatosplenic T-cell Lymphoma, Peripheral T-cell Lymphoma
- Interventions
- prednisone, cyclophosphamide, etoposide, Vincristine, pralatrexate, laboratory biomarker analysis, comparative genomic hybridization, gene expression analysis, nucleic acid sequencing, mutation analysis, immunohistochemistry staining method, microarray analysis, RNA analysis
- Drug · Other · Genetic
- Lead sponsor
- University of Nebraska
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 34 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2016
- U.S. locations
- 9
- States / cities
- Scottsdale, Arizona • Stanford, California • Atlanta, Georgia + 6 more