Search clinical trials for: citrate transporter deficiency
Total 12557 results
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TESS Research FoundationBrown University; Stanford University; University of Texas Southwestern Medical...RecruitingEpilepsy | Movement Disorders | Rare Diseases | Genetic Disorder | Citrate Transporter Deficiency | SLC13A5 Deficiency | EIEE25 | Kohlschutter-Tonz Syndrome (Non-ROGDI) | Citrate Transporter Disorder | DEE25United States
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TESS Research FoundationStanford UniversityEnrolling by invitationEpilepsy | Movement Disorders | Rare Diseases | Genetic Disorder | Citrate Transporter Deficiency | SLC13A5 Deficiency | EIEE25 | Kohlschutter-Tonz Syndrome (Non-ROGDI) | 17p13.1 Deletions Confined to SLC13A5 Gene | Citrate Transporter DisorderUnited States
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Irina A AnselmNo longer availableCitrate Transporter Deficiency | SLC13A5 Gene MutationUnited States
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Hospices Civils de LyonRecruitingCreatine Transporter DefectFrance
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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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Eunice Kennedy Shriver National Institute of Child...RecruitingNiemann-Pick Disease Type C1 | Juvenile Neuronal Ceroid Lipofuscinosis | Smith-Lemli-Opitz Syndrome | Creatine Transporter DeficiencyUnited States
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Eunice Kennedy Shriver National Institute of Child...McMaster University, Ontario, CanadaRecruitingAutism Spectrum Disorder | Metabolic Disease | Cognitive DisorderUnited States
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Rare Thyroid Therapeutics International ABPremier Research Group plc; Egetis TherapeuticsRecruitingMonocarboxylate Transporter 8 Deficiency | Allan-Herndon-Dudley SyndromeUnited States, United Kingdom, Netherlands
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Washington University School of MedicineJuvenile Diabetes Research FoundationRecruitingDiabetes Mellitus, Type 1United States
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Rockwell Medical Technologies, Inc.Not yet recruiting
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Umm Al-Qura UniversityNot yet recruitingPathologic Processes | Polycystic Ovary Syndrome | Vitamin D Deficiency | IVF | Vitamin D Supplement | Female Infertility
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Weill Medical College of Cornell UniversityRecruitingTestosterone DeficiencyUnited 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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National Institute of Allergy and Infectious Diseases...RecruitingCrohn's Disease | Glycogen Metabolism | Inflammatory Bowel Disease (IBD)United States
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Kaplan Medical CenterWeizmann Institute of ScienceRecruitingMonocarboxylate Transporter 8 DeficiencyIsrael
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Children's Memorial Health Institute, PolandDepartment of Internal Medicine, Hypertension and Vascular Diseases, The...Not yet recruitingGlucose 6 Phosphatase DeficiencyPoland
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rana alaaeldin aly ibrahim nasrAin Shams UniversityNot yet recruitingPolycystic Ovary Syndrome | Vitamin D Deficiency | Clomiphene Allergy
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Keryx BiopharmaceuticalsNot yet recruitingIron Deficiency Anemia Associated With Non-Dialysis Dependent Chronic Kidney Disease
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Erasmus Medical CenterUniversity Medical Center Groningen; Academisch Medisch Centrum - Universiteit... and other collaboratorsRecruitingHypertension | Renal Insufficiency, Chronic | Hyperkalemia | Potassium DepletionNetherlands
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Frieda WolfRecruiting
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Children's Hospital of PhiladelphiaEli Lilly and Company; University of Pennsylvania; Takeda; National Institute of... and other collaboratorsRecruitingMucopolysaccharidoses | Leukoencephalopathies | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2... and other conditionsUnited 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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Rare Thyroid Therapeutics International ABVitaccess LtdCompletedAllan-Herndon-Dudley Syndrome | Monocarboxylate Transporter 8 (MCT8) DeficiencyUnited Kingdom
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Rare Thyroid Therapeutics International ABEgetis Therapeutics; AnovoRxAvailableMonocarboxylate Transporter 8 Deficiency | Allan-Herndon-Dudley SyndromeUnited States
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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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Ultragenyx Pharmaceutical IncAvailableGlucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
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Vitaflo International, LtdCompletedIntractable Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Ketogenic DietingUnited Kingdom
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Vitaflo International, LtdWithdrawnEpilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Ketogenic Dieting
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Vitaflo International, LtdCompletedGlucose Transporter Type 1 Deficiency Syndrome | Ketogenic Dieting | Epilepsy IntractableUnited Kingdom
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University of CopenhagenDeakin UniversityCompleted
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Children's Hospital of PhiladelphiaIllumina, Inc.Active, not recruitingMucopolysaccharidoses | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2 Gangliosidosis | Zellweger... and other conditionsUnited 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 PascualActive, not recruitingGlucose Transporter Type 1 Deficiency Syndrome | GLUT1DS1United States
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Roy E. Weiss, M.D.AvailableMct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter DeficiencyUnited States
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USRC Kidney ResearchAkebia TherapeuticsActive, not recruitingDisease Progression | Renal Insufficiency, Chronic | Hyperphosphatemia | Anemia, Iron Deficiency | Renal Anemia | Iron | CardiovascularUnited States
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University of PennsylvaniaSuspendedLipid Metabolism, Inborn Errors | Cholesterol, HDL | Tangier Disease | LCAT Deficiency | Cholesteryl Ester Transfer Protein (CETP) DeficiencyUnited States
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CENTOGENE GmbH RostockWithdrawnIntellectual Disability | Developmental Delay | Intractable Epilepsy | Movement Disorder | Behavioral DisorderIndia, Sri Lanka, Egypt
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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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Ultragenyx Pharmaceutical IncTerminatedCreatine Deficiency, X-linkedUnited States, Canada
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USRC Kidney ResearchAkebia Therapeutics Inc.CompletedRenal Insufficiency | Hyperphosphatemia | Anemia, Iron DeficiencyUnited States
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Seoul National University HospitalCompletedEvaluation of Metabolic Markers for the Prediction of DDI of Various CYP3A Substrates and InhibitorsHealthyKorea, Republic of
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Boston Children's HospitalUNICEF; Ministry of Health, Liberia; Liberia Institute of Statistics and Geo-Information...WithdrawnNutritional Anemia | Knowledge, Attitudes, Practice | Food Habits | Iron Deficiency Anemia Treatment | Nutritional Deficiency | Adolescent Development | Folic Acid Deficiency Anemia, Dietary
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National Institute of Allergy and Infectious Diseases...Completed
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Institut National de la Santé Et de la Recherche...Ultragenyx Pharmaceutical IncCompletedGlut1 Deficiency SyndromeFrance
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Swiss Federal Institute of TechnologyJomo Kenyatta University of Agriculture and TechnologyCompletedIron-deficiency | Iron Deficiency Anemia | Gastro Intestinal BleedingKenya
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University of Colorado, DenverUniversity of Pittsburgh; National Institute of General Medical Sciences (NIGMS)CompletedChronic Kidney Diseases | Deficiency, Vitamin DUnited States
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Keryx BiopharmaceuticalsCompletedChronic Kidney Diseases | Iron Deficiency AnemiaUnited States
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Adrian LacyUltragenyx Pharmaceutical IncCompletedGlucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)United States
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IVI MadridCompletedInfertility, FemaleSpain
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Rockwell Medical Technologies, Inc.TerminatedIron-Refractory Iron-Deficiency Anemia