Clinical Trials on Carbamyl Phosphate Synthetase Deficiency
Total 31 results
-
Baylor College of MedicineChildren's National Research InstituteRecruitingOrnithine Transcarbamylase Deficiency | Urea Cycle Disorder | Carbamyl Phosphate Synthetase Deficiency | Argininosuccinic Aciduria | Hyperargininemia | Citrullinemia 1 | ARGI Deficiency | ASL Deficiency | ASS Deficiency | NAGS DeficiencyUnited States
-
Children's Hospital of PhiladelphiaEunice Kennedy Shriver National Institute of Child Health and Human Development...WithdrawnUrea Cycle Disorders, Inborn | Inborn Errors of Metabolism | Propionic Acidemia | Methylmalonic Acidemia | Carbamyl Phosphate Synthetase Deficiency
-
Cytonet GmbH & Co. KGCompletedOrnithine Transcarbamylase Deficiency | Urea Cycle Disorders | Citrullinemia | Carbamoylphosphate Synthetase I DeficiencyGermany
-
West Kazakhstan Medical UniversityRecruitingOrnithine Transcarbamylase Deficiency | Biotinidase Deficiency | Citrullinemia | Glutaric Acidemia Type II | Argininosuccinic Aciduria | Maple Syrup Urine Disease | Primary Carnitine Deficiency | Homocystinuria | Carnitine Palmitoyltransferase II Deficiency | Arginase Deficiency | Very Long-chain Acyl-CoA... and other conditionsKazakhstan
-
National Human Genome Research Institute (NHGRI)TerminatedCitrullinemia | Argininosuccinic Aciduria | Hyperargininemia | Ornithine Carbamoyltransferase Deficiency | Carbamoyl-Phosphate Synthase I Deficiency | N-Acetylglutamate Synthase DeficiencyUnited States
-
Polaris GroupCompletedArgininosuccinate Synthetase DeficientUnited States
-
Mendel TuchmanChildren's Hospital of Philadelphia; University of California, Los Angeles; Icahn... and other collaboratorsCompletedMethylmalonic Acidemia | Carbamoyl-Phosphate Synthase I Deficiency Disease | Propionic Acidemia, Type I and/or Type II | Ornithine Carbamoyltransferase DeficiencyUnited States
-
MedicureRecruitingPyridox(am)Ine 5'-Phosphate Oxidase DeficiencyUnited States, Australia
-
University Hospital, Strasbourg, FranceUnknownThe Glutathione Synthetase DeficiencyFrance
-
The First Hospital of Jilin UniversityNational Natural Science Foundation of ChinaUnknownGenetic Diseases, Inborn | Asparagine Synthetase DeficiencyChina
-
University of Mississippi, OxfordCompletedMalaria | Glucose 6 Phosphate Dehydrogenase DeficiencyUnited States
-
PATHUniversity of Oxford; Mahidol UniversityCompletedGlucose-6 Phosphate Dehydrogenase DeficiencyThailand
-
PATHEijkman Institute for Molecular BiologyCompletedGlucose-6-Phosphate Dehydrogenase DeficiencyIndonesia
-
Ain Shams UniversityUnknownGlucose-6-Phosphate Dehydrogenase DeficiencyEgypt
-
DDC Clinic - Center for Special Needs ChildrenUnknownGM3 Synthase Deficiency
-
Jens Rikardt AndersenSt. Olavs HospitalCompletedStarvation | Refeeding Syndrome | Phosphate Deficiency
-
Nicholas Ah MewIcahn School of Medicine at Mount Sinai; Boston Children's HospitalRecruitingN-acetylglutamate Synthase (NAGS) DeficiencyUnited States
-
Centre Hospitalier Régional de la CitadelleSanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Universitaire... and other collaboratorsRecruitingCongenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditionsBelgium
-
Ankara City Hospital BilkentRecruitingCovid19 | Mortality | Phosphate DeficiencyTurkey
-
Southern Medical University, ChinaUnknownNeonatal HyperbilirubinemiaChina
-
First Affiliated Hospital, Sun Yat-Sen UniversityRecruitingStroke | G6PD DeficiencyChina
-
RTI InternationalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationPrimary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditionsUnited States
-
Baylor College of MedicineCompletedCitrullinemiaUnited States
-
Great Ormond Street Hospital for Children NHS Foundation...National Institute for Health Research, United Kingdom; The Freya FoundationRecruitingPyruvate Dehydrogenase Complex Deficiency | Pyruvate Dehydrogenase E1 Alpha Deficiency | Pyruvate Dehydrogenase E1-Beta Deficiency | Pyruvate Dehydrogenase E2 Deficiency | Pyruvate Dehydrogenase Phosphatase DeficiencyUnited Kingdom
-
Children's Memorial Health Institute, PolandDepartment of Internal Medicine, Hypertension and Vascular Diseases, The...Not yet recruitingGlucose 6 Phosphatase DeficiencyPoland
-
Cliniques universitaires Saint-Luc- Université...UnknownGlucose 6 Phosphatase Deficiency | Glycogen Storage Disease Type IBelgium
-
Rigshospitalet, DenmarkUnknownCarbohydrate Metabolism, Inborn Errors | Metabolism, Inborn Errors | Lipid Metabolism, Inborn Errors | Glycogen Storage Disease Type II | Glycogen Storage Disease Type V | VLCAD Deficiency | Glycogen Storage Disease Type III | Phosphoglycerate Kinase Deficiency | Neutral Lipid Storage Disease | Carnitine... and other conditionsDenmark
-
Travere Therapeutics, Inc.Recruiting
-
National Human Genome Research Institute (NHGRI)RecruitingMetabolic Disease | Purine-Pyrimidine Metabolism | AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064,... and other conditionsUnited States
-
Aeglea BiotherapeuticsTerminatedHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyUnited States, United Kingdom, Australia
-
Sanford HealthNational Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaboratorsRecruitingMitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditionsUnited States, Australia