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Clinical Trials on Amino Acid Transport Disorders, Inborn
Total 7680 results
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Advicenne PharmaWithdrawn
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Queen's University, BelfastUniversity of SussexUnknownRetinitis Pigmentosa | Low Vision | Albinism | Stargardt Disease 1 | Stargardt Disease 3 | Stargardt Disease 4United Kingdom
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CENTOGENE GmbH RostockWithdrawnCholesterol Ester Storage Disease | Acid Lipase Deficiency | Acid Cholesteryl Ester Hydrolase Deficiency, Wolman TypeGermany, India, Sri Lanka
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Duke UniversityPfizerCompletedInsulin Sensitivity | Branched-chain Amino Acid MetabolismUnited States
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Axcella Health, IncCompletedSickle Cell Disease | Anemia, Sickle Cell | Sickle Cell Anemia | To Assess the Safety and Tolerabiltiy of an Amino Acid Composition in Subjects With Sickle Cell Disease | Sickle Cell DisordersUnited States
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Nimble Science Ltd.Not yet recruitingNutrition | Microtia | Amino Acid Change | Food Science | Digestion RateCanada
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University of WashingtonNational Heart, Lung, and Blood Institute (NHLBI)CompletedMyocardial Infarction | Heart Diseases | Cardiovascular Diseases | Coronary Disease | Cerebrovascular Accident | Hyperhomocysteinemia
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Hospices Civils de LyonUnknownLiver Post-transplant PatientsFrance
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University of UtahNational Institute of Allergy and Infectious Diseases (NIAID); Duke University and other collaboratorsCompleted
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Hoffmann-La RocheCompletedRenal Tubular Acidosis, Distal, With Hemolytic AnemiaSerbia
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University Medical Center GroningenCompletedAnesthesia | Hemodynamic Instability | Interaction | Disorder of Oxygen TransportNetherlands
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Hospices Civils de LyonUnknownPatients Waiting for a Liver Transplant.France
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Washington University School of MedicineUniversity of California, Davis; Universidad San Francisco de Quito; Pan American...CompletedCholine Deficiency | Vitamin B-12 Deficiency | Lipids Deficiency | Amino Acids DeficiencyEcuador
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National Heart, Lung, and Blood Institute (NHLBI)CompletedMyocardial Infarction | Heart Diseases | Cardiovascular Diseases | Cerebrovascular Disorders | Peripheral Vascular Diseases | Atherosclerosis | Hyperhomocysteinemia
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William Gahl, M.D.National Human Genome Research Institute (NHGRI)CompletedPulmonary Fibrosis | Inborn Errors of Metabolism | Albinism | Oculocutaneous Albinism | Platelet Storage Pool DeficiencyUnited 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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National Human Genome Research Institute (NHGRI)RecruitingHermansky-Pudlak Syndrome (HPS)United States
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Alexion PharmaceuticalsTerminatedLysosomal Acid Lipase DeficiencyUnited Kingdom, Finland, United States, Italy
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Tehran University of Medical SciencesUnknownBartter SyndromeIran, Islamic Republic of
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Ultragenyx Pharmaceutical IncAvailableGlucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
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National Human Genome Research Institute (NHGRI)RecruitingMitochondrial Disorders | Leigh Disease | Oxidative Phosphorylation Deficiencies | Electron Transport Chain Disorders, MitochondrialUnited States
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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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Charite University, Berlin, GermanyCompletedMetabolic Acidosis | Acid-Base Balance Disorder
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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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National Human Genome Research Institute (NHGRI)RecruitingPulmonary Fibrosis | Healthy Volunteers | Hermansky-Pudlak Syndrome (HPS)United States
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Vanderbilt UniversityNational Heart, Lung, and Blood Institute (NHLBI); University of South Florida and other collaboratorsCompletedHermansky Pudlak SyndromeUnited States
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Jesse RomanGenentech, Inc.UnknownInterstitial Lung Disease | Hermansky Pudlak SyndromeUnited States, Puerto Rico
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National Institute of Allergy and Infectious Diseases...WithdrawnColitis | Cytokines | Hermanski-Pudlak Syndrome | Lymphocytes | Drug EvaluationUnited States
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National Human Genome Research Institute (NHGRI)TerminatedPulmonary Fibrosis | Metabolic Disease | Oculocutaneous Albinism | Hermansky-Pudlak Syndrome (HPS) | Platelet Storage Pool DeficiencyUnited States
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Adrian LacyUltragenyx Pharmaceutical IncCompletedGlucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)United States
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Devicare S.L.Clever Instruments S.L.; Fundacio PuigvertUnknown
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University of LausanneUniversity of Modena and Reggio EmiliaCompletedN-Acetylneuraminic Acid Storage DiseaseSwitzerland, Italy
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NYU Langone HealthCompletedCystinuriaUnited States
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NYU Langone HealthNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)Completed
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University of TorontoRecruitingSarcopenia | Aging | Sedentary Behavior | Amino Acids | Dietary ProteinCanada
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National Institute of Diabetes and Digestive and...CompletedGastric Acid Secretory DisordersUnited States
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Alexion PharmaceuticalsCompletedWolman Disease | Lysosomal Acid Lipase DeficiencyUnited Kingdom, France, United States, Egypt, Ireland
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Indiana UniversityCompletedChronic Kidney DiseaseUnited 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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Advicenne PharmaNot yet recruitingCystinuriaFrance, Belgium
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Revive Therapeutics, Ltd.Unknown
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Tufts UniversityTufts Medical CenterTerminated
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Postgraduate Institute of Medical Education and...UnknownAcid-Base Balance DisorderIndia
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Mayo ClinicCompleted
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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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National Center for Research Resources (NCRR)University of TexasCompleted
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University Medical Center GroningenUMC Utrecht; University of Oxford; Academisch Medisch Centrum - Universiteit... and other collaboratorsCompletedVLCAD Deficiency | Fatty Acid Oxidation DefectsNetherlands
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Alexion PharmaceuticalsTerminatedLysosomal Acid Lipase DeficiencyUnited States
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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