- Conditions
- Breast Cancer, Ovarian Cancer
- Interventions
- Not listed
- Lead sponsor
- National Cancer Institute (NCI)
- NIH
- Eligibility
- 19 Years to 100 Years · Female only
- Enrollment
- 40 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2003
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
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- 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
- Diabetes Mellitus
- Interventions
- genetic testing for type 2 diabetes, Conventional risk counseling, eye disease counseling
- Genetic · Behavioral
- Lead sponsor
- US Department of Veterans Affairs
- Federal
- Eligibility
- 21 Years to 65 Years
- Enrollment
- 601 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2013
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- Gaucher Disease, Type 1
- Interventions
- Not listed
- Lead sponsor
- Genzyme, a Sanofi Company
- Industry
- Eligibility
- 16 Years to 65 Years
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2009
- U.S. locations
- 1
- States / cities
- New York, New York
- Conditions
- Down Syndrome
- Interventions
- Down Syndrome Clinic to You (DSC2U)
- Other
- Lead sponsor
- Massachusetts General Hospital
- Other
- Eligibility
- 1 Year and older
- Enrollment
- 281 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2017 – 2019
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Pancreatic Ductal Adenocarcinoma, Familial Pancreatic Cancer, FAMMM - Familial Atypical Mole Malignant Melanoma Syndrome
- Interventions
- Not listed
- Lead sponsor
- Immunovia, Inc.
- Industry
- Eligibility
- Not listed
- Enrollment
- 1,349 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2016 – 2021
- U.S. locations
- 13
- States / cities
- Stanford, California • New Haven, Connecticut • Chicago, Illinois + 8 more
- Conditions
- HIV Infections
- Interventions
- Not listed
- Lead sponsor
- Advancing Clinical Therapeutics Globally for HIV/AIDS and Other Infections
- Network
- Eligibility
- Not listed
- Enrollment
- 17,444 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2002 – 2027
- U.S. locations
- 62
- States / cities
- Los Angeles, California • San Diego, California • San Francisco, California + 32 more
- Conditions
- Pseudomonas Infection, Cystic Fibrosis
- Interventions
- Not listed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- 9 Years to 99 Years
- Enrollment
- 134 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 1998 – 2018
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Smith-Lemli-Opitz Syndrome, Pregnancy
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- Female only
- Enrollment
- 1,800 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2001 – 2005
- U.S. locations
- 1
- States / cities
- Scarborough, Maine
- Conditions
- Bone Marrow Transplant, Sickle Cell Disease, G-CSF
- Interventions
- Not listed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- Not listed
- Enrollment
- 816 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2008 – 2021
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Prostatic Neoplasm, Prostate Cancer, BRCA2 Mutation, BRCA1 Mutation, ATM Gene Mutation, MMR Mutation, Lynch Syndrome, Genetic Predisposition to Disease
- Interventions
- Prostate cancer screening
- Diagnostic Test
- Lead sponsor
- Massachusetts General Hospital
- Other
- Eligibility
- 35 Years to 74 Years · Male only
- Enrollment
- 400 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2040
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Chlamydia Trachomatis Infection, Gonorrhea
- Interventions
- Ct/GC screening
- Other
- Lead sponsor
- Tulane University
- Other
- Eligibility
- 15 Years to 26 Years · Male only
- Enrollment
- 1,907 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2017 – 2021
- U.S. locations
- 1
- States / cities
- New Orleans, Louisiana
- Conditions
- Pancreatic Neoplasm, Peutz-Jeghers Syndrome
- Interventions
- Biopsy, Fine Needle Aspiration (FNA), Secretin (human synthetic) - ChiRhoClin
- Procedure · Drug
- Lead sponsor
- Johns Hopkins University
- Other
- Eligibility
- 40 Years to 80 Years
- Enrollment
- 200 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2006 – 2009
- U.S. locations
- 1
- States / cities
- Baltimore, Maryland
- Conditions
- Infertility
- Interventions
- Not listed
- Lead sponsor
- Progyny, Inc.
- Industry
- Eligibility
- Up to 43 Years · Female only
- Enrollment
- 110 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2014
- U.S. locations
- 2
- States / cities
- Morristown, New Jersey • New York, New York
- Conditions
- Colon Cancer, Rectal Cancer
- Interventions
- Patient Navigator
- Other
- Lead sponsor
- Ohio State University Comprehensive Cancer Center
- Other
- Eligibility
- 25 Years to 75 Years
- Enrollment
- 1,900 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2013 – 2020
- U.S. locations
- 1
- States / cities
- Columbus, Ohio
- Conditions
- Prenatal Disorder
- Interventions
- Standard Care, Obstetric Prenatal Genetic Testing Engagement Solution (OPUS) AI Chatbot
- Behavioral
- Lead sponsor
- The Cleveland Clinic
- Other
- Eligibility
- 18 Years to 50 Years · Female only
- Enrollment
- 600 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2027
- U.S. locations
- 3
- States / cities
- Cleveland, Ohio
- Conditions
- Metastatic Colon Adenocarcinoma, Metastatic Rectal Adenocarcinoma, Stage III Colon Cancer AJCC v8, Stage III Rectal Cancer AJCC v8, Stage IIIA Colon Cancer AJCC v8, Stage IIIA Rectal Cancer AJCC v8, Stage IIIB Colon Cancer AJCC v8, Stage IIIB Rectal Cancer AJCC v8, Stage IIIC Colon Cancer AJCC v8, Stage IIIC Rectal Cancer AJCC v8, Stage IV Colon Cancer AJCC v8, Stage IV Rectal Cancer AJCC v8, Stage IVA Colon Cancer AJCC v8, Stage IVA Rectal Cancer AJCC v8, Stage IVB Colon Cancer AJCC v8, Stage IVB Rectal Cancer AJCC v8, Stage IVC Colon Cancer AJCC v8, Stage IVC Rectal Cancer AJCC v8, Unresectable Colon Adenocarcinoma, Unresectable Rectal Adenocarcinoma
- Interventions
- Genetic Testing
- Other
- Lead sponsor
- Academic and Community Cancer Research United
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 199 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2023
- U.S. locations
- 18
- States / cities
- Scottsdale, Arizona • La Jolla, California • Los Angeles, California + 14 more
- Conditions
- Infertility
- Interventions
- Preimplantation Genetic Testing-Aneuploidy
- Genetic
- Lead sponsor
- Reproductive Medicine Associates of New Jersey
- Other
- Eligibility
- 18 Years to 42 Years · Female only
- Enrollment
- 237 participants
- Timeline
- 2018 – 2020
- U.S. locations
- 4
- States / cities
- Lake Mary, Florida • Basking Ridge, New Jersey • Allentown, Pennsylvania + 1 more
- Conditions
- Breast Cancer, Colorectal Cancer
- Interventions
- Genetic Testing and Counseling, Screening Form
- Behavioral
- Lead sponsor
- M.D. Anderson Cancer Center
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 1,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2022 – 2027
- U.S. locations
- 1
- States / cities
- Houston, Texas
- Conditions
- Prostate Cancer, Polygenic Risk Score
- Interventions
- Polygenic Risk Score (PRS)
- Other
- Lead sponsor
- Adam S. Kibel, MD
- Other
- Eligibility
- 40 Years to 69 Years · Male only
- Enrollment
- 1,500 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2024 – 2030
- U.S. locations
- 5
- States / cities
- Washington D.C., District of Columbia • Bethesda, Maryland • Boston, Massachusetts
- Conditions
- Alpha Thalassemia
- Interventions
- Not listed
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
- NIH
- Eligibility
- 18 Years to 39 Years
- Enrollment
- 367 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2017 – 2027
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Infertility
- Interventions
- Not listed
- Lead sponsor
- Inception Fertility Research Institute, LLC
- Industry
- Eligibility
- Female only
- Enrollment
- 600 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024
- U.S. locations
- 1
- States / cities
- Houston, Texas
- Conditions
- Genetic Counseling, Shared Decision Making, Pregnancy, Genetic Testing, Prenatal Disorder
- Interventions
- Meaning of Screening, Genetic Counseling, Usual Care
- Behavioral
- Lead sponsor
- Erin Rothwell
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 2,045 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2023 – 2026
- U.S. locations
- 3
- States / cities
- Birmingham, Alabama • Chapel Hill, North Carolina • Salt Lake City, Utah
- Conditions
- Prenatal Care, Prenatal Diagnosis
- Interventions
- Not listed
- Lead sponsor
- The Cleveland Clinic
- Other
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 78 participants
- Timeline
- 2025 – 2026
- U.S. locations
- 2
- States / cities
- Cleveland, Ohio