Clinical Trials

35 trials
RecentStart dateEnrollment
Observational × Retinoblastoma × Clear all
NCT03050268 2026-04-23

SJFAMILY

St. Jude Children's Research Hospital

Recruiting
1,500 enrolled
BreastCNSClassical hematologyDermatologicEndocrineGastrointestinalGynecologicLymphoidOther solid neoplasmSarcoma

Turcot syndrome, Juvenile polyposis syndrome, Choroid Plexus Carcinoma, GATA2 Deficiency, Basal Cell Nevus Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis, Fanconi Anemia, Hamartoma Syndrome, Multiple, von Hippel-Lindau Disease, Hodgkin Disease, Lymphoma, Non-Hodgkin, Melanoma, Neuroblastoma, Neurofibromatosis 1, Noonan Syndrome, Pancreatic Neoplasms, Paraganglioma, Peutz-Jeghers Syndrome, Pheochromocytoma, Rothmund-Thomson Syndrome, Adenomatous Polyposis Coli, Retinoblastoma, Rhabdomyosarcoma, Tuberous Sclerosis, Neurofibromatosis 2, Li-Fraumeni Syndrome, Adrenocortical Carcinoma, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2a, Dyskeratosis Congenita, Genetic Predisposition to Disease, Anemia, Diamond-Blackfan, Carney Complex, Hereditary Breast and Ovarian Cancer Syndrome

NCT05687474 2025-08-12

BabyDetect

Centre Hospitalier Universitaire de Liege

Completed
6,824 enrolled
Classical hematologyEndocrineHead & NeckMyeloidOther solid neoplasm

Ataxia with vitamin E deficiency, Beta ketothiolase deficiency, Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 2 deficiency, dopamine beta hydroxylase deficiency, Malonic aciduria, Nephrosis, congenital, Cholestasis, progressive familial intrahepatic 1, Medium chain acyl CoA dehydrogenase deficiency, Pyridoxine-dependent epilepsy, Neonatal-onset citrullinemia type 2, Systemic carnitine deficiency, Glut1 Deficiency Syndrome, Glutaric Acidemia I, Timothy syndrome, Brown-Vialetto-Van Laere syndrome, Methylmalonic acidemia, Aromatic amino acid decarboxylase deficiency, Succinyl-CoA:3-oxoacid CoA transferase deficiency, Segawa syndrome, autosomal recessive, Neutropenia, Severe Congenital, Autosomal Recessive 3, Basal ganglia disease, biotin-responsive, Sucrase-isomaltase deficiency, congenital, Acidemia, isovaleric, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, HHH syndrome, Glucose-Galactose Malabsorption, Hypophosphatasia, Infantile, Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency, Carnitine-Acylcarnitine Translocase Deficiency, Hypermethioninemia, Cardiomyopathy, Familial Hypertrophic, 4, Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency, Phosphoglycerate Dehydrogenase Deficiency, Trifunctional Protein Deficiency With Myopathy And Neuropathy, Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of, Phosphoserine Aminotransferase Deficiency, Inflammatory Bowel Disease 25, Autosomal Recessive, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency, Neurodegeneration Due To Cerebral Folate Transport Deficiency, Glycogen Storage Disease XIV, Combined Pituitary Hormone Deficiency, Shwachman-Diamond Syndrome, Polymorphic Catecholaminergic Ventricular Tachycardia, Adrenal Hyperplasia, Congenital, Adrenoleukodystrophy, Anemia, Sickle Cell, Charcot-Marie-Tooth Disease, Chediak-Higashi Syndrome, Hemophilia B, Congenital Hypothyroidism, Crigler-Najjar Syndrome, Cystic Fibrosis, Cystinosis, Diabetes Mellitus, Type 2, Fanconi Syndrome, Fanconi Anemia, Fructose Intolerance, Galactosemias, Gaucher Disease, Glucosephosphate Dehydrogenase Deficiency, Glycogen Storage Disease, Glycogen Storage Disease Type II, Granulomatous Disease, Chronic, Hemophilia A, Hepatolenticular Degeneration, Homocystinuria, Hyperoxaluria, Primary, Menkes Kinky Hair Syndrome, Leukodystrophy, Metachromatic, Mucopolysaccharidosis I, Hyperlipoproteinemia Type I, Maple Syrup Urine Disease, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Nephritis, Hereditary, Neuronal Ceroid-Lipofuscinoses, Phenylketonurias, Pseudohypoaldosteronism, Retinoblastoma, Riboflavin Deficiency, Vitamin B 12 Deficiency, Wiskott-Aldrich Syndrome, Wolman Disease, Fructose-1,6-Diphosphatase Deficiency, Severe Combined Immunodeficiency, Mucopolysaccharidosis II, Mucopolysaccharidosis VII, Stiff-Person Syndrome, alpha-Thalassemia, Diabetes Insipidus, Nephrogenic, Smith-Lemli-Opitz Syndrome, alpha 1-Antitrypsin Deficiency, Hyperglycinemia, Nonketotic, Citrullinemia, Hyperargininemia, Ornithine Carbamoyltransferase Deficiency Disease, Carbamoyl-Phosphate Synthase I Deficiency Disease, Tyrosinemias, Myasthenic Syndromes, Congenital, Biotinidase Deficiency, Holocarboxylase Synthetase Deficiency, Anemia, Diamond-Blackfan, Jervell-Lange Nielsen Syndrome, Congenital Hyperinsulinism, Andersen Syndrome, Lymphohistiocytosis, Hemophagocytic, Familial Hypophosphatemic Rickets, Aspartylglucosaminuria, Propionic Acidemia, Argininosuccinic Aciduria

NCT03655223 2025-04-04

Early Check: Expanded Screening in Newborns

RTI International

Enrolling by invitation
30,000 enrolled
Classical hematologyEndocrineHead & NeckOther solid neoplasm

Severe combined immunodeficiency due to adenosine deaminase deficiency, 3-methylcrotonyl CoA carboxylase 1 deficiency, 3-methylcrotonyl CoA carboxylase 2 deficiency, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Ataxia with vitamin E deficiency, Beta ketothiolase deficiency, Bile acid synthesis defect, congenital, 2, Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 2 deficiency, Creatine deficiency, X-linked, Adrenocorticotropic hormone deficiency, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Congenital disorder of glycosylation type 1B, Medium chain acyl CoA dehydrogenase deficiency, N-acetyl glutamate synthetase deficiency, Niemann-Pick disease, type C2, Pyridoxine-dependent epilepsy, VLCAD deficiency, Primary hyperoxaluria type 1, Primary hyperoxaluria type 2, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Usher syndrome, type 1B, Usher syndrome, type 1C, Usher syndrome, type 1F, Amaurosis congenita of Leber, type 2, Glut1 Deficiency Syndrome, Glutaric Acidemia I, Glutathione synthetase deficiency, Brown-Vialetto-Van Laere syndrome, Methylenetetrahydrofolate reductase deficiency, Methylmalonic acidemia with homocystinuria, Methylmalonic aciduria cblA type, Methylmalonic aciduria cblB type, Pitt-Hopkins syndrome, Stickler syndrome, type 1, Stickler syndrome, type 2, Segawa syndrome, autosomal recessive, Guanidinoacetate methyltransferase deficiency, Basal ganglia disease, biotin-responsive, Acidemia, isovaleric, Acrodermatitis enteropathica, Adenine phosphoribosyltransferase deficiency, Adrenal hyperplasia, congenital, type 5, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Hyperinsulinemic hypoglycemia, familial, 6, HHH syndrome, Glycogen Storage Disease IB, Hyperphenylalaninemia, BH4-Deficient, B, Thyroid Dyshormonogenesis 3, Thyroid Dyshormonogenesis 5, Glycogen Storage Disease IC, Carnitine-Acylcarnitine Translocase Deficiency, Glycogen Storage Disease IXB, Thyroid Dyshormonogenesis 2A, Intrinsic Factor Deficiency, Hyperparathyroidism, Neonatal Severe Primary, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Diabetes Mellitus, Permanent Neonatal, Maturity-Onset Diabetes of the Young, Type 4, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 1, Tuberous Sclerosis 1, Molybdenum Cofactor Deficiency, Complementation Group A, Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency, Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type, Tuberous Sclerosis 2, Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency, Trifunctional Protein Deficiency With Myopathy And Neuropathy, Arginine-Glycine Amidinotransferase Deficiency, Jervell And Lange-Nielsen Syndrome 2, Glycogen Storage Disease, Type IXA2, Pituitary Hormone Deficiency, Combined, 1, Glycogen Storage Disease IXC, Anemia, Sickle Cell, Hemophilia B, Congenital Hypothyroidism, Cystic Fibrosis, Cystinosis, Diabetes Mellitus, Disease, Epilepsy, Epilepsies, Myoclonic, Factor VII Deficiency, Factor X Deficiency, Fragile X Syndrome, Fructose Intolerance, Galactosemias, Glycogen Storage Disease Type I, Glucosephosphate Dehydrogenase Deficiency, Glycogen Storage Disease Type II, Granulomatous Disease, Chronic, Hemophilia A, Hepatolenticular Degeneration, Homocystinuria, Hypophosphatasia, Menkes Kinky Hair Syndrome, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Mucopolysaccharidosis I, Mucopolysaccharidosis III, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Muscular Atrophy, Spinal, Nephritis, Hereditary, Phenylketonurias, Prader-Willi Syndrome, Pseudohypoaldosteronism, Retinoblastoma, Stress Disorders, Post-Traumatic, Waardenburg Syndrome, Wolman Disease, Fructose-1,6-Diphosphatase Deficiency, Rett Syndrome, Gyrate Atrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis VII, beta-Thalassemia, Angelman Syndrome, Canavan Disease, Multiple Endocrine Neoplasia Type 2b, Peroxisomal Disorders, Smith-Lemli-Opitz Syndrome, Xanthomatosis, Cerebrotendinous, Citrullinemia, Hyperargininemia, Ornithine Carbamoyltransferase Deficiency Disease, Carbamoyl-Phosphate Synthase I Deficiency Disease, Tyrosinemias, Muscular Dystrophy, Duchenne, Aortic Stenosis, Supravalvular, Hermanski-Pudlak Syndrome, Biotinidase Deficiency, Holocarboxylase Synthetase Deficiency, Jervell-Lange Nielsen Syndrome, Mineralocorticoid Excess Syndrome, Apparent, Congenital Hyperinsulinism, Niemann-Pick Disease, Type A, Niemann-Pick Disease, Type C, Familial Hypophosphatemic Rickets, X-Linked Combined Immunodeficiency Diseases, Propionic Acidemia, von Willebrand Disease, Type 3, Argininosuccinic Aciduria, Barth Syndrome, Liddle Syndrome