Clinical Trials on Glut1 Deficiency Syndrome 1, Autosomal Recessive
Total 209 results
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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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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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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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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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Juan PascualNo longer availableGlucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency SyndromeUnited States
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Institut National de la Santé Et de la Recherche...Ultragenyx Pharmaceutical IncCompletedGlut1 Deficiency SyndromeFrance
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Newcastle-upon-Tyne Hospitals NHS TrustRecruitingBethlem Myopathy | Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2 | Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive | Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant | Bethlem Myopathy 1, Autosomal Recessive | UCMD | BTHLM1United Kingdom
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Ultragenyx Pharmaceutical IncAvailableGlucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
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Ultragenyx Pharmaceutical IncCompletedGlucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)United States, Spain, Australia, France, Israel, Italy, United Kingdom
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Adrian LacyUltragenyx Pharmaceutical IncCompletedGlucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)United States
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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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Ultragenyx Pharmaceutical IncTerminatedGlucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)United States, Spain, France, Germany, Italy, United Kingdom
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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
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Radboud University Medical CenterCompletedEpilepsy | Ketogenic Dieting | Lactic Acid Blood Increased | GLUT1DS1 | GLUT1 Deficiency Syndrome | GLUT1DS2Netherlands
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IRCCS National Neurological Institute "C. Mondino...University of Roma La SapienzaRecruitingDystonia | Gait Disorders, Neurologic | Gait Ataxia | GLUT1DS1Italy
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National Institute of Allergy and Infectious Diseases...TerminatedAutosomal-dominant Hyper-IgE SyndromeUnited States
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CSL BehringCompletedCommon Variable Immunodeficiency | X-linked Agammaglobulinemia | Autosomal Recessive AgammaglobulinemiaGermany, United Kingdom, France, Italy, Poland, Romania, Spain, Sweden, Switzerland
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Assistance Publique - Hôpitaux de ParisCompletedSpinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia, Autosomal Recessive 3 | Episodic Ataxia, Type 7France
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Alkeus Pharmaceuticals, Inc.RecruitingStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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Alkeus Pharmaceuticals, Inc.Enrolling by invitationStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
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Jerry Vockley, MD, PhDUltragenyx Pharmaceutical IncNo longer availableGlucose Transporter 1 Deficiency SyndromeUnited States
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute...CompletedSevere Combined Immunodeficiency | Adenosine Deaminase Deficiency | Immune System Disorder | Autosomal Recessive Disorder | Purine-Nucleoside Phosphorylase Deficiency | Severe Combined Immunodeficiency With Absence of T and B Cells | X-Linked Severe Combined ImmunodeficiencyUnited States
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University of British ColumbiaUltragenyx Pharmaceutical IncUnknownGlucose Transporter Type 1 Deficiency SyndromeCanada
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Juan PascualActive, not recruitingGlucose Transporter Type 1 Deficiency Syndrome | GLUT1DS1United States
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National Medical Research Center for Therapy and...Moscow State University of Medicine and DentistryRecruitingMedication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditionsRussian Federation
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UK Kidney AssociationRecruitingVasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditionsUnited Kingdom
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Lisa M. Guay-WoodfordNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)RecruitingNephronophthisis | Joubert Syndrome | Bardet Biedl Syndrome | Autosomal Recessive Polycystic Kidney Disease | Congenital Hepatic Fibrosis | Hepato/Renal Fibrocystic Disease | Meckel-Gruber Syndrome | Caroli Syndrome | Oro-Facial-Digital Syndrome Type I | Glomerulocystic Kidney DiseaseUnited States
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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
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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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Janssen Sciences Ireland UCCompletedImmunodeficiency Virus Type 1, HumanUnited States, France, Poland, United Kingdom, Belgium, Germany, Spain, Canada, Russian Federation, Puerto Rico
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Eunice Kennedy Shriver National Institute of Child...University of WashingtonUnknownWiskott-Aldrich Syndrome | Leukocyte Adhesion Deficiency Syndrome | X-Linked Agammaglobulinemia | X-Linked Hyper IgM SyndromeUnited States
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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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Xiaofan ZhuAvailableFanconi Anemia | Autosomal or Sex Linked Recessive Genetic Disease | Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. | Hematopoiesis Maintainance.China
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University Hospital, MontpellierCentre Hospitalier Universitaire de NīmesUnknownKleine-Levin Syndrome | Narcolepsy 1France
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Merck Sharp & Dohme LLCWithdrawnHIV-1 | Immunodeficiency Virus Type 1, Human | Human Immunodeficiency Virus Type 1 | Human Immunodeficiency Virus 1
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Cadent TherapeuticsWithdrawnSpinocerebellar Ataxia Type 3 | Spinocerebellar Ataxias | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia Type 6 | Spinocerebellar Ataxia Type 10 | Spinocerebellar Ataxia Type 7 | Spinocerebellar Ataxia Type 8 | Spinocerebellar Ataxia Type 17 | ARCA1 - Autosomal Recessive...United States
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Inozyme PharmaEngage Health Inc.; GACI GlobalCompletedGeneralized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets Type 2United States
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ANRS, Emerging Infectious DiseasesEuropean and Developing Countries Clinical Trials Partnership (EDCTP); European...RecruitingTuberculosis | HIV-1-infection | Immuno-DeficiencyUganda, Cambodia, Cameroon, Guinea, Vietnam, Zambia
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Northwestern UniversityIcahn School of Medicine at Mount SinaiCompletedNetherton Syndrome | Ichthyosis | Lamellar Ichthyosis | Autosomal Recessive Congenital Ichthyosis | Congenital Ichthyosiform Erythroderma | Epidermolytic IchthyosisUnited States
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National Institute of Allergy and Infectious Diseases...CompletedImmunoproliferative DisorderUnited States
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Inozyme PharmaRecruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyUnited States, United Kingdom, Canada, France, Germany
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Vitaflo International, LtdWithdrawnEpilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Ketogenic Dieting
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RetroLead (Shanghai) BioPharma Co., Ltd.Not yet recruitingHuman Immunodeficiency Virus-1 (HIV-1) Infection
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Bristol-Myers SquibbCompletedHuman Immunodeficiency Virus Type 1 (HIV-1)United States
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Bristol-Myers SquibbCompletedHIV Infections | Human Immunodeficiency Virus Type 1 (HIV-1)United States, Netherlands
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Tibotec Pharmaceuticals, IrelandCompletedHIV Infections | HIV-1 | Human Immunodeficiency Virus Type 1United States, Australia, France, United Kingdom, Taiwan, Spain, Argentina, Portugal, Romania, South Africa, Canada, Denmark, Sweden, Netherlands, Brazil, Puerto Rico, Austria, Russian Federation, Thailand, Mexico