Clinical Trials on Carbamoyl Phosphate Synthetase 1 Deficiency
Total 351 results
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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
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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
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Cytonet GmbH & Co. KGCompletedOrnithine Transcarbamylase Deficiency | Urea Cycle Disorders | Citrullinemia | Carbamoylphosphate Synthetase I DeficiencyGermany
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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
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National Human Genome Research Institute (NHGRI)TerminatedCitrullinemia | Argininosuccinic Aciduria | Hyperargininemia | Ornithine Carbamoyltransferase Deficiency | Carbamoyl-Phosphate Synthase I Deficiency | N-Acetylglutamate Synthase DeficiencyUnited States
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Polaris GroupCompletedArgininosuccinate Synthetase DeficientUnited States
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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
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University Hospital, Strasbourg, FranceUnknownThe Glutathione Synthetase DeficiencyFrance
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MedicureRecruitingPyridox(am)Ine 5'-Phosphate Oxidase DeficiencyUnited States, Australia
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The First Hospital of Jilin UniversityNational Natural Science Foundation of ChinaUnknownGenetic Diseases, Inborn | Asparagine Synthetase DeficiencyChina
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University of Mississippi, OxfordCompletedMalaria | Glucose 6 Phosphate Dehydrogenase DeficiencyUnited States
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PATHUniversity of Oxford; Mahidol UniversityCompletedGlucose-6 Phosphate Dehydrogenase DeficiencyThailand
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PATHEijkman Institute for Molecular BiologyCompletedGlucose-6-Phosphate Dehydrogenase DeficiencyIndonesia
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Ain Shams UniversityUnknownGlucose-6-Phosphate Dehydrogenase DeficiencyEgypt
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DDC Clinic - Center for Special Needs ChildrenUnknownGM3 Synthase Deficiency
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Jens Rikardt AndersenSt. Olavs HospitalCompletedStarvation | Refeeding Syndrome | Phosphate Deficiency
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Centre Hospitalier Universitaire de LiegeSanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... 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
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IpsenRecruitingIGF1 DeficiencySpain, United States, Italy, France, United Kingdom, Germany, Austria, French Guiana, Poland, Sweden, Martinique
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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
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Nicholas Ah MewIcahn School of Medicine at Mount Sinai; Boston Children's HospitalRecruitingN-acetylglutamate Synthase (NAGS) DeficiencyUnited States
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IpsenTerminatedIGF-1 DeficiencySpain
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University of Texas Southwestern Medical CenterRecruitingGlucose Transporter Type 1 Deficiency Syndrome | GLUT1 Deficiency Syndrome | Glucose Transporter type1 (GLUT-1) Deficiency | GLUT-1 Deficiency SyndromeUnited States
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University of Texas Southwestern Medical CenterRecruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1 | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport DefectUnited States
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Hospices Civils de LyonCompleted
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Ankara City Hospital BilkentRecruitingCovid19 | Mortality | Phosphate DeficiencyTurkey
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Assiut UniversityUnknown
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Juan PascualNational Institute of Neurological Disorders and Stroke (NINDS)CompletedGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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University of FloridaAlpha-1 FoundationEnrolling by invitation
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Thomayer University HospitalMasaryk UniversityRecruiting
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Imagine InstituteRecruiting
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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
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Michael Campos, MDCSL BehringCompletedAlpha 1 Antitrypsin DeficiencyUnited States
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University of PittsburghNational Heart, Lung, and Blood Institute (NHLBI)CompletedAlpha 1 Antitrypsin Deficiency | AATDUnited States
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Juan PascualNo longer availableGlucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency SyndromeUnited States
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Washington University School of MedicineNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); N... and other collaboratorsTerminatedLiver Cirrhosis | Alpha-1-antitrypsin DeficiencyUnited States
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Alnylam PharmaceuticalsTerminatedZZ Type Alpha-1 Antitrypsin Deficiency Liver DiseaseUnited Kingdom
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Juan PascualCompletedGlucose Transporter Type 1 Deficiency Syndrome | GLUT1 Deficiency SyndromeUnited States
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Juan PascualWithdrawnGlucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency SyndromeUnited States
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Children's Hospital Los AngelesCompletedType 1 Diabetes | Vitamin D Deficiency/InsufficiencyUnited States
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Southern Medical University, ChinaUnknownNeonatal HyperbilirubinemiaChina
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Heidelberg UniversityTerminatedHereditary Emphysema (Alpha 1-antitrypsin Deficiency)Germany
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Grifols Therapeutics LLCCompletedEmphysema | Alpha 1-antitrypsin Deficiency (AATD)United States
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First Affiliated Hospital, Sun Yat-Sen UniversityRecruitingStroke | G6PD DeficiencyChina
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Baxalta now part of ShireArriva Pharmaceuticals, Inc.CompletedAlpha1-antitrypsin DeficiencyUnited States
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Grifols Therapeutics LLCCompletedAlpha₁-Antitrypsin DeficiencyUnited States
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IpsenTerminatedrhGH and rhIGF-1 Combination Therapy in Children With Short Stature Associated With IGF-1 DeficiencyInsulin-like Growth Factor-1 DeficiencyUnited States
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Grifols Therapeutics LLCActive, not recruitingPulmonary Emphysema in Alpha-1 PI DeficiencyUnited States, Australia, Denmark, New Zealand, Estonia, Poland, Russian Federation, Sweden, Brazil, Canada, France, Finland
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Schön Klinik Berchtesgadener LandGrifols Therapeutics LLC; Alpha-1 FoundationCompletedChronic Obstructive Pulmonary Disease | Alpha-1-antitrypsin-deficiencyGermany
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Grifols Therapeutics LLCGrifols Japan K.K.CompletedAlpha1-Antitrypsin DeficiencyJapan