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| NCT Number | NCT03655223 |
| Lead Sponsor | RTI International
Collaborators: University of North Carolina, Chapel Hill, The John Merck Fund, Duke University, Wake Forest University, North Carolina Department of Health and Human Services, National Center for Advancing Translational Sciences (NCATS), Cure SMA, The National Fragile X Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Asuragen, Inc., Sarepta Therapeutics, Inc., Muscular Dystrophy Association, The Leona M. and Harry B. Helmsley Charitable Trust, Juvenile Diabetes Research Foundation, Janssen Pharmaceuticals, GeneDx, Illumina, Inc. |
| Conditions (from sponsor) |
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 +177 more |
| Related terms | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, 3-methylcrotonyl CoA carboxylase 1 deficiency, 3-methylcrotonyl CoA carboxylase 2 deficiency, Acidemia, isovaleric, Acrodermatitis enteropathica, Adenine phosphoribosyltransferase deficiency, Adrenal hyperplasia, congenital, type 5, Adrenocorticotropic hormone deficiency, Amaurosis congenita of Leber, type 2, Anemia, Sickle Cell, Angelman Syndrome, Aortic Stenosis, Supravalvular, Arginine-Glycine Amidinotransferase Deficiency, Argininosuccinic Aciduria, Ataxia with vitamin E deficiency, Barth Syndrome, Basal ganglia disease, biotin-responsive, Beta ketothiolase deficiency, beta-Thalassemia, Bile acid synthesis defect, congenital, 2, Biotinidase Deficiency, Brown-Vialetto-Van Laere syndrome, Canavan Disease, Carbamoyl-Phosphate Synthase I Deficiency Disease, Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 2 deficiency, Carnitine-Acylcarnitine Translocase Deficiency, Citrullinemia, Congenital disorder of glycosylation type 1B, Congenital Hyperinsulinism, Congenital Hypothyroidism, Creatine deficiency, X-linked, Cystic Fibrosis, Cystinosis, Diabetes Mellitus, Diabetes Mellitus, Permanent Neonatal, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Disease, Epilepsies, Myoclonic, Epilepsy, Factor VII Deficiency, Factor X Deficiency, Familial Hypophosphatemic Rickets, Fragile X Syndrome, Fructose Intolerance, Fructose-1,6-Diphosphatase Deficiency, Galactosemias, Glucosephosphate Dehydrogenase Deficiency, Glut1 Deficiency Syndrome, Glutaric Acidemia I, Glutathione synthetase deficiency, Glycogen Storage Disease IB, Glycogen Storage Disease IC, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, Glycogen Storage Disease Type I, Glycogen Storage Disease Type II, Glycogen Storage Disease, Type IXA2, Granulomatous Disease, Chronic, Guanidinoacetate methyltransferase deficiency, Gyrate Atrophy, Hemophilia A, Hemophilia B, Hepatolenticular Degeneration, Hermanski-Pudlak Syndrome, HHH syndrome, Holocarboxylase Synthetase Deficiency, Homocystinuria, Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type, Hyperargininemia, Hyperinsulinemic hypoglycemia, familial, 6, Hyperparathyroidism, Neonatal Severe Primary, Hyperphenylalaninemia, BH4-Deficient, B, Hypophosphatasia, Intrinsic Factor Deficiency, Jervell And Lange-Nielsen Syndrome 2, Jervell-Lange Nielsen Syndrome, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Liddle Syndrome, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Maturity-Onset Diabetes of the Young, Type 4, Medium chain acyl CoA dehydrogenase deficiency, Menkes Kinky Hair Syndrome, Methylenetetrahydrofolate reductase deficiency, Methylmalonic acidemia with homocystinuria, Methylmalonic aciduria cblA type, Methylmalonic aciduria cblB type, Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency, Mineralocorticoid Excess Syndrome, Apparent, Molybdenum Cofactor Deficiency, Complementation Group A, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Multiple Endocrine Neoplasia Type 2b, Muscular Atrophy, Spinal, Muscular Dystrophy, Duchenne, N-acetyl glutamate synthetase deficiency, Nephritis, Hereditary, Niemann-Pick Disease, Type A, Niemann-Pick Disease, Type C, Niemann-Pick disease, type C2, Ornithine Carbamoyltransferase Deficiency Disease, Peroxisomal Disorders, Phenylketonurias, Pitt-Hopkins syndrome, Pituitary Hormone Deficiency, Combined, 1, Prader-Willi Syndrome, Primary hyperoxaluria type 1, Primary hyperoxaluria type 2, Propionic Acidemia, Pseudohypoaldosteronism, Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency, Pyridoxine-dependent epilepsy, Retinoblastoma, Rett Syndrome, Segawa syndrome, autosomal recessive, Severe combined immunodeficiency due to adenosine deaminase deficiency, Smith-Lemli-Opitz Syndrome, Stickler syndrome, type 1, Stickler syndrome, type 2, Stress Disorders, Post-Traumatic, Thyroid Dyshormonogenesis 1, Thyroid Dyshormonogenesis 2A, Thyroid Dyshormonogenesis 3, Thyroid Dyshormonogenesis 5, Thyroid Dyshormonogenesis 6, Trifunctional Protein Deficiency With Myopathy And Neuropathy, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Tyrosinemias, Usher syndrome, type 1B, Usher syndrome, type 1C, Usher syndrome, type 1F, VLCAD deficiency, von Willebrand Disease, Type 3, Waardenburg Syndrome, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Wolman Disease, X-Linked Combined Immunodeficiency Diseases, Xanthomatosis, Cerebrotendinous |
| Enrollment | 30,000 participants |
| Start Date | |
| Primary Completion | (estimated) |
| Study Completion | (estimated) |
| Updated on ClinicalTrials.gov |