Clinical Trials on Pyruvate Dehydrogenase E1-Beta Deficiency
Total 107 results
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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
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University of PittsburghNational Institute of Neurological Disorders and Stroke (NINDS); Rare Diseases...RecruitingPyruvate Dehydrogenase Complex Deficiency DiseaseUnited States
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Jerry Vockley, MD, PhDUltragenyx Pharmaceutical IncNo longer availableBarth Syndrome | Mitochondrial Trifunctional Protein Deficiency | Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency | Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2) | Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency | Glycogen Storage Disorders | Pyruvate Carboxylase Deficiency... and other conditionsUnited States
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Jirair Krikor BedoyanUltragenyx Pharmaceutical IncRecruitingPyruvate Dehydrogenase Complex DeficiencyUnited States
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University of FloridaEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsActive, not recruitingPyruvate Dehydrogenase Complex DeficiencyUnited States
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Fondazione TelethonCompletedPyruvate Dehydrogenase Complex DeficiencyItaly
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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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Oregon Health and Science UniversityCompletedTrifunctional Protein Deficiency | Carnitine Palmitoyltransferase 2 Deficiency | Very Long-chain Acyl-CoA Dehydrogenase Deficiency | Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
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Oregon Health and Science UniversityCompletedNormal Volunteers | Trifunctional Protein Deficiency | Very Long-chain Acyl-CoA Dehydrogenase Deficiency | Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency | Medium-chain Acyl-CoA Dehydrogenase Deficiency | Carnitine Palmitoyltransferase II Deficiency, MyopathicUnited States
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Rigshospitalet, DenmarkGroupe Hospitalier Pitie-SalpetriereCompletedCarnitine Palmitoyltransferase II Deficiency | Very Long Chain Acyl Coa Dehydrogenase DeficiencyDenmark
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Oregon Health and Science UniversityCompletedTrifunctional Protein Deficiency | Very Long Chain Acyl Coa Dehydrogenase Deficiency | Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency | Carnitine Palmitoyltransferase Deficiency 2United States
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Horizon Pharma USA, Inc.CompletedAldehyde Dehydrogenase-2 (ALDH2) DeficiencyUnited States
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Oregon Health and Science UniversityUniversity of PittsburghCompletedVery Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency | Carnitine Palmitoyltransferase 2 (CPT2) Deficiency | Mitochondrial Trifunctional Protein (TFP) Deficiency | Long-chain 3 hydroxyacylCoA Dehydrogenase (LCHAD) DeficiencyUnited States
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Ultragenyx Pharmaceutical IncCompletedCarnitine Palmitoyltransferase (CPT I or CPT II) Deficiency | Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency | Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency | Trifunctional Protein (TFP) Deficiency | Carnitine-acylcarnitine Translocase (CACT) DeficiencyUnited States, United Kingdom
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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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Boston Children's HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsActive, not recruitingSuccinic Semialdehyde Dehydrogenase DeficiencyUnited States, United Kingdom, Germany, Spain
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University of PittsburghHorizon Pharma Ireland, Ltd., Dublin IrelandCompletedMedium-chain Acyl-CoA Dehydrogenase (MCAD) DeficiencyUnited States
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Ultragenyx Pharmaceutical IncCompletedLong-chain Fatty Acid Oxidation Disorders (LC-FAOD) | Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency | Trifunctional Protein (TFP) Deficiency | Carnitine Palmitoyltransferase (CPT II) Deficiency | Longchain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) DeficiencyUnited States, United Kingdom
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Oslo University HospitalActive, not recruiting
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Vanderbilt UniversityApproved for marketing
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Ain Shams UniversityUnknownGlucose-6-Phosphate Dehydrogenase DeficiencyEgypt
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Agios Pharmaceuticals, Inc.RecruitingPediatric Pyruvate Kinase Deficiency | Pediatric Hemolytic AnemiaUnited States, Spain, Germany, Netherlands, Canada, France, Israel, Switzerland, Italy
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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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Agios Pharmaceuticals, Inc.Active, not recruitingPediatric Pyruvate Kinase Deficiency | Pediatric Hemolytic AnemiaUnited States, Spain, Denmark, Turkey, Netherlands, Czechia, United Kingdom, Germany, Canada, Switzerland
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Agios Pharmaceuticals, Inc.TerminatedAnemia | Anemia, Hemolytic | Pyruvate Kinase Deficiency | Pyruvate Kinase Deficiency AnemiaUnited States, United Kingdom, Italy, Spain, Netherlands
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Agios Pharmaceuticals, Inc.Enrolling by invitationAnemia, Hemolytic | Pyruvate Kinase DeficiencyJapan
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Origin BiosciencesCompletedMolybdenum Cofactor Deficiency (MoCD) | Rare Autosomal Recessive Disorder | Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)United States
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National Institute of Neurological Disorders and...CompletedSuccinic Semialdehyde | Dehydrogenase Deficiency | DiseasesUnited States
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Vanderbilt UniversityNational Heart, Lung, and Blood Institute (NHLBI)TerminatedAutonomic Nervous System Diseases | Orthostatic Hypotension | Orthostatic Intolerance | Dopamine Beta-Hydroxylase DeficiencyUnited States
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Rocket Pharmaceuticals Inc.Not yet recruitingPyruvate Kinase DeficiencySpain, United States
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Agios Pharmaceuticals, Inc.Active, not recruitingPyruvate Kinase DeficiencyUnited States, Spain, Japan, Canada, United Kingdom, Korea, Republic of, Ireland, Thailand, Italy, Turkey, Denmark, Brazil, France, Germany, Netherlands, Switzerland
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Vanderbilt University Medical CenterCompletedAutonomic Nervous System Diseases | Orthostatic Hypotension | Orthostatic Intolerance | Dopamine Beta-Hydroxylase DeficiencyUnited States
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Southern Medical University, ChinaUnknownNeonatal HyperbilirubinemiaChina
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Agios Pharmaceuticals, Inc.CompletedPyruvate Kinase DeficiencyUnited States, Italy, Netherlands
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CENTOGENE GmbH RostockCompletedPyruvate Kinase DeficiencyUnited States
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Agios Pharmaceuticals, Inc.CompletedAnemia, Hemolytic | Pyruvate Kinase DeficiencyUnited States, Spain, Switzerland, Turkey, Germany, France, United Kingdom, Japan, Netherlands, Brazil, Canada, Czechia, Denmark, Italy, Korea, Republic of, Thailand
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First Affiliated Hospital, Sun Yat-Sen UniversityRecruitingStroke | G6PD DeficiencyChina
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Agios Pharmaceuticals, Inc.RecruitingPyruvate Kinase DeficiencyUnited States, Germany, Spain, Italy, United Kingdom, Czechia, France, Canada, Korea, Republic of, Netherlands, Turkey, Portugal, Denmark, Ireland, Switzerland, Thailand
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Agios Pharmaceuticals, Inc.Active, not recruitingPyruvate Kinase DeficiencyUnited States, Canada, Netherlands, United Kingdom, France, Italy
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Rocket Pharmaceuticals Inc.Active, not recruiting
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Agios Pharmaceuticals, Inc.CompletedAnemia, Hemolytic | Pyruvate Kinase DeficiencyUnited States, United Kingdom, Netherlands, Canada, Denmark, France, Italy, Ireland, Thailand
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National Institute of Neurological Disorders and...CompletedSeizures | Metabolic DiseaseUnited States
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University of California, San FranciscoCompletedAlcohol-Related Disorders | Flushing | Aldehyde Dehydrogenase DeficiencyUnited States
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Assiut UniversityUnknown
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Boston Children's HospitalAgios Pharmaceuticals, Inc.CompletedPyruvate Kinase Deficiency | Congenital Non-Spherocytic Hemolytic AnemiaUnited States, Germany, Canada, Czechia, Italy, Netherlands
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University of OxfordCompletedHealthy | G6PD Normal | G6PD DeficientThailand
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Newcastle-upon-Tyne Hospitals NHS TrustNewcastle University; DSM Nutritional Products, Inc.CompletedVitamin A Deficiency | Beta-carotene BioavailabilityUnited Kingdom
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Jerry Vockley, MD, PhDAcer Therapeutics Inc.RecruitingMedium-chain Acyl-CoA Dehydrogenase DeficiencyUnited States