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Clinical Trials on Pyruvate Metabolism, Inborn Errors in United States
Total 2366 results
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ArmaGen, IncCompletedMucopolysaccharidosis IUnited States
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QOL Medical, LLCJohns Hopkins University; Massachusetts General Hospital; Baylor College of Medicine and other collaboratorsCompletedCongenital Sucrase-isomaltase Deficiency (CSID)United States
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Duke UniversityCompleted
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Allievex CorporationEnrolling by invitationMPS III BUnited States, Germany, Turkey, United Kingdom, Colombia
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Aeglea BiotherapeuticsTerminatedHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyUnited States, United Kingdom, Australia
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Forge Biologics, IncActive, not recruiting
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Kastle Therapeutics, LLCIonis Pharmaceuticals, Inc.CompletedMetabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditionsUnited States
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University of California, San DiegoCalifornia Institute for Regenerative Medicine (CIRM); Cystinosis Research...Active, not recruiting
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Virginia Commonwealth UniversityNot yet recruitingAmyloidosis, HereditaryUnited States
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Children's Mercy Hospital Kansas CityCompletedHypophosphatemic Rickets, X-Linked DominantUnited States
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Travere Therapeutics, Inc.RecruitingNatural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)Homocystinuria Due to CBS DeficiencyIreland, Qatar, United States, United Kingdom
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Cycle Pharmaceuticals Ltd.ParexelCompletedHereditary Tyrosinemia, Type ISouth Africa
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BioMarin PharmaceuticalCompletedMPS VIUnited States, Australia, France, Brazil, Germany, Portugal, United Kingdom
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Regeneron PharmaceuticalsSanofiCompletedHeterozygous Familial HypercholesterolemiaUnited Kingdom, Netherlands, Czech Republic, Norway
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Savient PharmaceuticalsCompleted
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AlexionCompletedWolman Disease | Lysosomal Acid Lipase DeficiencyUnited States, Canada, United Kingdom, Italy, France
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Novartis PharmaceuticalsRecruitingHeterozygous or Homozygous Familial HypercholesterolemiaNetherlands, Israel, Hungary, Italy, Germany, Spain, United States, France, Norway, Russian Federation, South Africa, Turkey, United Kingdom, Canada, Switzerland, Brazil, Lebanon, Slovenia, Poland, Taiwan, Malaysia
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Horizon Therapeutics Ireland DACCompleted
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BioMarin PharmaceuticalCompletedPhenylketonuria | HyperphenylalaninaemiaUnited States
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BioMarin PharmaceuticalCompletedPhenylketonuria (PKU)United States
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ShireCompletedGaucher DiseaseUnited States, Spain, United Kingdom, Israel
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University of MinnesotaNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaboratorsTerminatedTay-Sachs Disease | Sandhoff Disease | GM1 Gangliosidoses | GM2 GangliosidosesUnited States
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Alexion PharmaceuticalsTerminatedLysosomal Acid Lipase DeficiencyUnited States
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Duke UniversityGenzyme, a Sanofi CompanyActive, not recruitingPompe Disease (Late-onset) | Pompe Disease | GAA DeficiencyUnited States
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Duke UniversityWithdrawnPompe Disease (Late-onset)United States
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Swedish Orphan BiovitrumCompletedHereditary Tyrosinemia, Type IGermany, United Kingdom, France
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Alexion PharmaceuticalsCompletedLysosomal Acid Lipase DeficiencySpain, Germany, Italy, United States, Croatia, Canada, Russian Federation, Denmark, United Kingdom, Belgium, Mexico, Australia, Netherlands, Brazil, Turkey
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Adrian LacyUltragenyx Pharmaceutical IncCompletedGlucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)United States
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University of Wisconsin, MadisonTerminated
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BioMarin PharmaceuticalCompletedPhenylketonuriaItaly, Turkey, United Kingdom, Germany, Netherlands, Slovakia, Austria, Belgium, Czechia
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Alexion PharmaceuticalsCompletedLysosomal Acid Lipase Deficiency | Cholesterol Ester Storage Disease(CESD) | LAL-DeficiencyFrance, United States, United Kingdom, Czechia
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The Medicines CompanyCompletedElevated Cholesterol | Heterozygous Familial HypercholesterolemiaUnited States, Canada, Czechia, Denmark, Netherlands, South Africa, Spain, Sweden
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National Institute of Neurological Disorders and...CompletedSuccinic Semialdehyde Dehydrogenase Deficiency | SSADH DeficiencyUnited States
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Forge Biologics, IncRecruitingKrabbe DiseaseUnited States
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Redwood Dermatology SciencesUltragenyx Pharmaceutical IncCompletedPain, Chronic | Hypophosphatemia | Hypophosphatemic RicketsUnited States
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Indiana UniversityCompletedAutosomal Dominant Hypophosphatemic RicketsUnited States
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National Eye Institute (NEI)CompletedAlbinism | Albinism, Oculocutaneous | Albinism, OcularUnited States
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Ardea Biosciences, Inc.CompletedGoutPoland, United States, Spain, Canada, Ukraine, United Kingdom
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Aeglea BiotherapeuticsCompletedArginase I Deficiency | HyperargininemiaUnited States, Italy, Canada, France, United Kingdom, Austria, Germany
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Kyowa Hakko Kirin Pharma, Inc.Kyowa Kirin Co., Ltd.CompletedX-linked HypophosphatemiaUnited States, Canada
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Keele UniversityCompleted
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Ionis Pharmaceuticals, Inc.Active, not recruitingFamilial Chylomicronemia SyndromeUnited States, Canada, Sweden
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Children's Hospital Medical Center, CincinnatiCompletedOsteopenia | Gaucher's DiseaseIsrael, United States
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Savient PharmaceuticalsCompletedChronic Gout Refractory to Conventional TherapyUnited States
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IntraBio IncCompletedGM2 Gangliosidosis | Tay-Sachs Disease | Sandhoff DiseaseUnited States, Germany, Spain, United Kingdom
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National Organization for Rare DisordersFood and Drug Administration (FDA)Active, not recruitingMetachromatic LeukodystrophyUnited States
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University of PittsburghActive, not recruitingMetachromatic LeukodystrophyUnited States
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Children's Hospital Medical Center, CincinnatiCompletedBile Acid Synthesis Defect | Inborn Error of Bile Acid Metabolism | Inborn Error of Bile Acid ConjugationUnited States
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Ultragenyx Pharmaceutical IncRecruitingOTC DeficiencyUnited States, Portugal, Australia, Italy, Spain, United Kingdom, Japan, Canada, Germany, France, Argentina, Netherlands, Brazil
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Shanton Pharma Co., Ltd.CompletedGout, HyperuricemiaUnited States