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Showing 1–24 of 100 matching trials from the live ClinicalTrials.gov search.
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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
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
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
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
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Congenital Heart Disease

NCT01192048
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
Not yet recruiting Not applicable Interventional

Rapid Diagnostics for Genetic Disorders in Neonates

NCT07005700
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
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
Enrolling by invitation No phase listed Observational

Reverse Phenotyping Core

NCT03632239
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
Completed Not applicable Interventional Results available

CLUSTER Trial for Outbreak Detection and Response

NCT04053075
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
Completed Not applicable Interventional Results available

Single Embryo TrAnsfeR of Euploid Embryo

NCT02268786
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
Terminated No phase listed Observational Accepts healthy volunteers

Genetic Causes of Growth Disorders

NCT02311322
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