Clinical Trials on Carbohydrate Metabolism, Inborn Errors
Total 4336 results
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Duke UniversityKriya TherapeuticsRecruitingGlycogen Storage Disease VI | GLYCOGEN STORAGE DISEASE IXa1 | GLYCOGEN STORAGE DISEASE IXa2 | Glycogen Storage Disease IXB | Glycogen Storage Disease IXC | GSD 9 (All Subtypes) | GSD 6United States
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CENTOGENE GmbH RostockWithdrawnDevelopmental Delay | Splenomegaly | Hepatomegaly | Skeletal AbnormalitiesGermany, India, Sri Lanka, Egypt
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Allievex CorporationCompletedMucopolysaccharidosis Type IIIB | Mucopolysaccharidosis Type 3 B | MPS III B | MPS 3 BUnited States, Spain, Turkey, Taiwan, Australia, Colombia, Germany, United Kingdom
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Alexion PharmaceuticalsTerminatedMPS IIIB (Sanfilippo B Syndrome)Spain, United States, Brazil, United Kingdom, Portugal, Italy
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BioMarin PharmaceuticalCompletedMorquio A Syndrome | MPS IVA | Mucopolysaccharidosis IVATaiwan, United States, Italy, United Kingdom
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John MitchellCompletedGlycogen Storage Disease Type III | Glycogen Storage Disease Type IA | Glycogen Storage Disease Type IB | Glycogen Storage Disease Type 0Canada
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Genzyme, a Sanofi CompanyBioMarin/Genzyme LLCCompletedMucopolysaccharidosis I | Hurler-Scheie Syndrome | Hurlers SyndromeUnited States, Canada, Germany
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Clínica de Hidroterapia e Recuperacao FuncionalIntegrated Faculty of RecifeTerminatedMorquio's Disease
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Mayo ClinicNational Institutes of Health (NIH); Oxalosis and Hyperoxaluria Foundation...WithdrawnKidney Stones | Nephrocalcinosis | Primary HyperoxaluriaUnited States
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CENTOGENE GmbH RostockRecruitingInborn Errors of MetabolismPakistan
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University of LausanneCompletedInborn Errors of MetabolismSwitzerland
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CENTOGENE GmbH RostockCompletedInborn Errors of Metabolism | BiomarkerEgypt, Sri Lanka, Albania, Romania, Georgia, India, Lithuania, Pakistan
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Universitaire Ziekenhuizen KU LeuvenUnknownLipid Metabolism, Inborn ErrorsBelgium
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University Children's Hospital, ZurichRecruitingInborn Errors of Metabolism | TransitionSwitzerland, Austria
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University of Erlangen-Nürnberg Medical SchoolRecruitingPompe Disease (Late-onset) | Pompe Disease | Pompe's Disease Juvenile Onset | Pompe Disease Infantile-OnsetGermany
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Arizona State UniversityWashington State UniversityEnrolling by invitationLanguage Disorders in Children | Classic Galactosemia | Speech Disorders in ChildrenUnited States
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Duke UniversityGenzyme, a Sanofi CompanyCompletedNeuropathy | Myopathy | Glycogen Storage Disease Type II (Late-onset Pompe Disease)United States
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Rigshospitalet, DenmarkDanish Research Center for Magnetic ResonanceRecruitingGlycogen Storage Disease | Pompe Disease (Late-onset) | McArdle DiseaseDenmark
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Genzyme, a Sanofi CompanyTerminatedGlycogen Storage Disease Type II (GSD-II) | Pompe Disease | Glycogenesis 2 Acid Maltase DeficiencyUnited States, Israel
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Genzyme, a Sanofi CompanyCompletedGlycogen Storage Disease Type II | Acid Maltase Deficiency Disease | Glycogenosis 2 | Pompe DiseaseUnited States
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Genzyme, a Sanofi CompanyCompletedPompe Disease Late-Onset | Glycogen Storage Disease Type II GSD IIUnited States
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Maastricht University Medical CenterThe Dutch Galactosemia SocietyUnknown
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National Human Genome Research Institute (NHGRI)RecruitingInborn Errors of Metabolism | Methylmalonic Acidemia | Organic AcidemiaUnited States
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Royal Brompton & Harefield NHS Foundation TrustGenzyme, a Sanofi CompanyUnknownPompe's Disease
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Genzyme, a Sanofi CompanyCompletedGlycogen Storage Disease Type II (GSD-II) | Pompe Disease | Glycogenesis 2 Acid Maltase DeficiencyUnited States, Canada, Australia
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Jordi Perez LopezHospital Vall d'HebronUnknown
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Vitaflo International, LtdCompleted
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REGENXBIO Inc.Active, not recruitingHurler Syndrome | Hurler-Scheie Syndrome | Mucopolysaccharidosis Type I (MPS I)United States, Brazil, Israel
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METAFORA biosystemsAssistance Publique - Hôpitaux de Paris; European Commission; Ministry for Health... and other collaboratorsCompletedMovement Disorders | Intellectual Disability | Seizures | Ataxia | Glut1 Deficiency Syndrome | De Vivo DiseaseFrance
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Masonic Cancer Center, University of MinnesotaWithdrawnMucopolysaccharidosis Type IH | Mucopolysaccharidosis Type IH (MPS IH, Hurler Syndrome) | MPS IH, Hurler Syndrome
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Dicerna Pharmaceuticals, Inc.CompletedKidney Diseases | Urologic Diseases | Genetic Disease | Primary Hyperoxaluria Type 1 (PH1) | Primary Hyperoxaluria Type 2 (PH2)Poland, United Kingdom, New Zealand, United States, Australia, Canada, France, Germany, Israel, Italy, Japan, Lebanon, Netherlands, Romania, Spain
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BioMarin PharmaceuticalCompletedMorquio A Syndrome | MPS IVA | Mucopolysaccharidosis IV AUnited States, Canada, France, Taiwan, Argentina, Colombia, Spain, Turkey, Japan, Saudi Arabia, Netherlands, Denmark, Korea, Republic of, Brazil, United Kingdom, Germany, Norway, Portugal, Italy, Qatar
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University of FloridaPrometheus LaboratoriesCompletedInflammatory Bowel Disease | Glycogen Storage Disease Type IaUnited States
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Dr. Schär AG / SPACompletedPhenylketonurias | Inborn Errors of Metabolism | Metabolic Disease | PKUUnited Kingdom
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Aga Khan University Hospital, PakistanCompletedInborn Errors of MetabolismPakistan
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Alexion Pharmaceuticals, Inc.RecruitingHypophosphatasiaUnited States, Japan, Italy, Germany, Turkey, India, Australia, United Kingdom, Argentina, France, Canada
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Alexion Pharmaceuticals, Inc.Not yet recruiting
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AlexionRecruiting
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Children's Mercy Hospital Kansas CityRecruiting
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Sheffield Teaching Hospitals NHS Foundation TrustNational Institute for Health Research, United Kingdom; Alexion Pharmaceuticals...Completed
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Sheffield Teaching Hospitals NHS Foundation TrustUniversity of SheffieldActive, not recruiting
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Institut de Myologie, FranceRecruitingMuscular Dystrophies | Mitochondrial Myopathies | Glycogen Storage Disease | Idiopathic Inflammatory Myopathies | Congenital MyopathyFrance
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Institut de Myologie, FranceRecruitingMuscular Dystrophies | Mitochondrial Myopathies | Glycogen Storage Disease | Idiopathic Inflammatory Myopathies | Congenital MyopathyFrance
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Hospital Ruber InternacionalRecruitingRefractory Epilepsy | SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of GlycosylationSpain
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Dicerna Pharmaceuticals, Inc., a Novo Nordisk companyActive, not recruitingPrimary Hyperoxaluria Type 3United States, Germany, United Kingdom, Canada, Poland
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BioMarin PharmaceuticalICON plcCompletedMucopolysaccharidosis IV Type A | Morquio A Syndrome | MPS IVAUnited States, United Kingdom, Australia, Taiwan, Belgium, Malaysia, Austria, Canada, Portugal, France, Ireland, Czechia, Denmark, Italy, Netherlands, Poland, Puerto Rico
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Rigshospitalet, DenmarkUltragenyx Pharmaceutical IncCompletedTarui Disease | Debrancher Deficiency | GYG1 DEFICIENCYDenmark
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Alnylam PharmaceuticalsCompletedPrimary Hyperoxaluria Type 1 (PH1)United States, France, United Kingdom, Switzerland, Netherlands, Israel, Germany, United Arab Emirates
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Dicerna Pharmaceuticals, Inc., a Novo Nordisk companyAvailablePrimary Hyperoxaluria Type 1 (PH1)
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BioMarin PharmaceuticalTerminatedMorquio A Syndrome | MPS IVA | Mucopolysaccharidosis IVAUnited Kingdom, United States, Germany