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Clinical Trials on Amino Acid Transport Disorders, Inborn
Total 7688 results
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Oklahoma State University Center for Health SciencesActive, not recruiting
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Southeast University, ChinaThe First Affiliated Hospital with Nanjing Medical UniversityCompletedType 2 Diabetes Mellitus | Lipid Metabolism Disorder | Fatty Acid Metabolism DisorderChina
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SanofiRecruitingAcid SphingoMyelinase Deficiency | Gaucher Disease, SplenomegalyFrance
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National Institute of Health and NutritionCompletedFolate Deficiency
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Westfälische Wilhelms-Universität MünsterICON plcUnknownPseudoxanthoma Elasticum | Generalized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic RicketsGermany
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Genzyme, a Sanofi CompanyCompletedPompe Disease (Late-onset) | Glycogen Storage Disease Type II (GSD-II) | Acid Maltase Deficiency Disease | Glycogenosis 2Netherlands
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Genzyme, a Sanofi CompanyCompletedPompe Disease (Late-onset) | Glycogen Storage Disease Type II (GSD-II) | Acid Maltase Deficiency Disease | Glycogenosis 2France
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Enzyvant Therapeutics GmBHCompletedFarber Disease | Farber's Disease | Farber Lipogranulomatosis | Acid Ceramidase Deficiency | Ceramidase Deficiency | N-Laurylsphingosine Deacylase Deficiency | ASAH1 MutationUnited States, Egypt, Canada, Italy, Turkey, Argentina, Germany, India, Sweden
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Genzyme, a Sanofi CompanyCompletedPompe Disease (Late-onset) | Glycogen Storage Disease Type II (GSD-II) | Acid Maltase Deficiency Disease | Glycogenosis 2United States, France, Netherlands
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Gilead SciencesCompletedHIV Infections | Renal Impairment | Fanconi Syndrome | Kidney DiseaseCanada, United States
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Dr. Schär AG / SPACompletedEpilepsy | Ketosis | Malabsorption | Fatty Acid Oxidation Disorder | Ketogenic DietUnited Kingdom
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Children's Hospital Medical Center, CincinnatiRecruiting
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Rocket Pharmaceuticals Inc.Active, not recruitingFanconi Anemia Complementation Group ASpain, United Kingdom
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Rocket Pharmaceuticals Inc.Active, not recruitingFanconi Anemia Complementation Group AUnited States
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Boston Children's HospitalTerminatedFanconi Anemia | Dyskeratosis CongenitaUnited States
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Genzyme, a Sanofi CompanyCompletedGlycogen Storage Disease Type II (GSD-II) | Pompe Disease (Late-Onset) | Glycogenesis Type II | Acid Maltase Deficiency (AMD)United States, France, Canada, Netherlands, Australia
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Bina Nusantara UniversityMaastricht University; Yayasan Rumah Sakit Islam (YARSI) University; Universitas...Completed
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Genzyme, a Sanofi CompanyTerminatedGlycogenosis 2 | Glycogen Storage Disease Type II (GSD II) | Acid Maltase Deficiency | Pompe Disease (Infantile-Onset)United States, Taiwan, Germany
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Genzyme, a Sanofi CompanyCompletedGlycogenesis 2 Acid Maltase Deficiency | Pompe Disease (Late-Onset) | Glycogen Storage Disease Type II (GSD II)United States, Netherlands, United Kingdom, Germany
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Genzyme, a Sanofi CompanyCompletedGlycogenesis 2 Acid Maltase Deficiency | Pompe Disease (Late-Onset) | Glycogen Storage Disease Type II (GSD II)France
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Spark TherapeuticsActive, not recruitingLysosomal Storage Diseases | Glycogen Storage Disease Type II | Glycogen Storage Disease Type 2 | Pompe Disease (Late-onset) | Pompe Disease | LOPD | Acid Maltase DeficiencyUnited States, Canada, Netherlands, France, Denmark, Germany, Italy, United Kingdom
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Spark TherapeuticsCompletedLysosomal Storage Diseases | Glycogen Storage Disease Type 2 | Pompe Disease (Late-onset) | Pompe Disease | LOPD | Acid Maltase DeficiencyUnited States, Italy, United Kingdom, Netherlands, France, Germany
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Shanghai 10th People's HospitalCompleted
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Second Affiliated Hospital, School of Medicine,...RecruitingTreatment Adherence | Autism | Dup15Q Syndrome | Retinoic AcidChina
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Maastricht University Medical CenterEnrolling by invitationTuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Xeroderma Pigmentosum | Birt-Hogg-Dube Syndrome | Palmoplantar KeratosesNetherlands
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Eunice Kennedy Shriver National Institute of Child...CompletedPseudotumor Cerebri | CystinosisUnited States
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Michio HiranoSanthera PharmaceuticalsCompletedMELAS SyndromeUnited States
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National Center for Research Resources (NCRR)University of California, San DiegoCompletedMELAS Syndrome | Lactic Acidosis | Mitochondrial MyopathyUnited States
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University Hospital, Clermont-FerrandUnknownHypoalbuminemia | Adult ICU Patient | Stewart Approach for Acid Base Disorders | Human Albumin PerfusionFrance
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National Center for Research Resources (NCRR)University of California, Los AngelesCompletedThrombocytopenia | Inborn Errors of Metabolism | Metachromatic Leukodystrophy | Fanconi's Anemia | Thalassemia Major | Pure Red-Cell AplasiaUnited States
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University Hospital, BordeauxRecruitingIntellectual Disability | Cystic Fibrosis | Neurodegeneration With Brain Iron Accumulation (NBIA) | Congenital Heart Defect | Albinism | Rubinstein-Taybi Syndrome | Periventricular Nodular HeterotopiaFrance
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University Hospital, Strasbourg, FranceCompletedFolic Acid Deficiency | Elderly Patients | Social IsolationFrance
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University of California, San FranciscoTerminatedResuscitation, Trauma PatientsUnited States
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Maastricht University Medical CenterRecruitingQuality of Life | Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Birt-Hogg-Dube Syndrome | Palmoplantar KeratosesNetherlands
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Inozyme PharmaNot yet recruitingPseudoxanthoma Elasticum | Arterial Calcification | Gene Mutations | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | Autosomal Recessive Hypophosphatemic Rickets Type 2
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Dr. Schär AG / SPACompletedEpilepsy | Ketosis | Malabsorption | Fatty Acid Oxidation Disorder | Ketogenic Diet | Medium Chain TriglyceridesUnited Kingdom
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Universitair Ziekenhuis BrusselUnknownAcid Reflux Esophagitis | Non-acid Reflux EsophagitisBelgium
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Shanghai Mental Health CenterHarbin Medical University; Qingdao Mental Health CenterRecruitingBipolar Disorder | Major Depressive Disorder | Omega-3 Fatty AcidsChina
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Genzyme, a Sanofi CompanyRecruitingPompe Disease (Late-onset) | Glycogen Storage Disease Type II (GSD-II) | Glycogenesis 2 Acid Maltase DeficiencyCroatia, United States, Italy, Belgium, Czechia
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Jesús González de la Aleja TejeraCompleted
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Barcelona Institute for Global HealthCompletedAttention Deficit Hyperactivity Disorder | Child Behavior Problem | Fatty Acid Deficiency
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United States Naval Medical Center, PortsmouthCompletedNon-acid Reflux DiseaseUnited States
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Hacettepe UniversityCompletedOrganic Acidemia | Cognitive OrientationTurkey
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Central Hospital, Nancy, FranceRecruiting
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Sun JiaCompletedOverweight | Carbohydrate | Sodium-glucose Transporter 2 InhibitorsChina
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National Human Genome Research Institute (NHGRI)CompletedGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets Type2United States
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National Institute on Aging (NIA)CompletedPhysiological Effects of Drugs | Hypoglycemic Agents | Empaglifozin | Sodium-Glucose Transporter 2 InhibitorsUnited States
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Genzyme, a Sanofi CompanyTerminatedNiemann-Pick Disease | Acid Sphingomyelinase DeficiencyUnited States
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Bournemouth UniversityDorset HealthCare University NHS Foundation TrustCompletedMetabolic Ketosis | Cognitive Impairments, MildUnited Kingdom
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University Hospitals Bristol and Weston NHS Foundation...Unknown