Clinical Trials on Creatine Deficiency, X-linked
Total 1561 results
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Chang Gung Memorial HospitalRecruitingFabry DiseaseTaiwan
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Baylor Research InstituteShireUnknownQuality of Life | Renal Insufficiency | Cardiac EventUnited States
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University Hospital HeidelbergCompletedFabry Disease | Chronic Abdominal Pain | Chronic Pain in the ExtremitiesGermany
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Genzyme, a Sanofi CompanyCRL/MedinetTerminatedFabry Disease | Chronic Kidney Disease, Stage IV (Severe)United States
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Emory UniversityCompletedSickle Cell Disease | Fanconi Anemia | Hurler Syndrome | Chronic Granulomatous Disease | Severe Congenital Neutropenia | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Glanzmann Thrombasthenia | Shwachman-Diamond Syndrome | Thalassemia Major | Leukocyte... and other conditionsUnited States
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Istituto Ortopedico RizzoliRecruitingLi-Fraumeni Syndrome | Li-Fraumeni-Like SyndromeItaly
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St. Jude Children's Research HospitalBaylor College of Medicine; Children's Hospital of Philadelphia; Dana-Farber... and other collaboratorsRecruitingMyelodysplastic Syndromes | Sickle Cell Disease | Fanconi Anemia | Severe Congenital Neutropenia | Bone Marrow Failure Syndromes | Blood Coagulation Disorder | Erythrocyte Disorder | Leukocyte Disorder | Hemostasis | Dyskeratosis Congenita | Diamond-Blackfan Anemia | Congenital Thrombocytopenia | Myeloproliferative...United States
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National Heart, Lung, and Blood Institute (NHLBI)CompletedCystic Fibrosis | Chronic Granulomatous Disease | Primary Ciliary Dyskinesia | Pseudohypoaldosteronism | Nontuberculous Mycobacterial InfectionUnited States
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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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Eunice Kennedy Shriver National Institute of Child...CompletedSmith-Lemli-Opitz SyndromeUnited States
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Eunice Kennedy Shriver National Institute of Child...CompletedEstimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African AmericansSmith-Lemli-Opitz SyndromeUnited States
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M.A.G.I.C. Clinic LTDHanalytics Solutions Inc.RecruitingMitochondrial Diseases | Fabry Disease | Metabolic Disease | Gaucher Disease | Pompe DiseaseCanada
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Amicus TherapeuticsRecruitingFabry DiseaseSpain, United States, Japan, Australia, France, Portugal
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University of Texas Southwestern Medical CenterRecruitingDuchenne Muscular Dystrophy | Becker Muscular Dystrophy | Dilated Cardiomyopathy | Cardiomyopathy, Hypertrophic | Heart Failure With Reduced Ejection Fraction | Cardiac Sarcoidosis | Heart Failure With Preserved Ejection FractionUnited States
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Oregon Health and Science UniversityTerminatedSmith-Lemli-Opitz SyndromeUnited States
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Eunice Kennedy Shriver National Institute of Child...WithdrawnSmith-Lemi-Opitz Syndrome
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University of ZurichCompletedFabry DiseaseSwitzerland
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Klinikum Wels-GrieskirchenGenzyme, a Sanofi CompanyCompletedFocus of Study: Prevalence of Fabry Disease in CKD PopulationAustria
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University Hospital, GhentCompletedBelgian Screening Project for the Detection of Anderson-Fabry Disease in Hypertrophic CardiomyopathyLeft Ventricular HypertrophyBelgium
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Eunice Kennedy Shriver National Institute of Child...CompletedPregnancy | Smith-Lemli-Opitz SyndromeUnited States
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National Center for Research Resources (NCRR)Oregon Health and Science UniversityUnknownSmith-Lemli-Opitz SyndromeUnited States
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Qilu Hospital of Shandong UniversityRecruitingFabry Disease | Hypertrophic Cardiomyopathy | Left Ventricular HypertrophyChina
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University Hospital, MontpellierRecruiting
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Boston Children's HospitalCompletedSmith-Lemli-Opitz SyndromeUnited States
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Forbes Porter, M.D.Eunice Kennedy Shriver National Institute of Child Health and Human Development...Completed
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Massachusetts General HospitalGenzyme, a Sanofi Company; Scott and White Hospital & ClinicTerminatedKidney Diseases | Genetic Diseases, X-Linked | End Stage Renal Disease | ESRD | Fabry Disease | Rare DiseasesUnited States
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Weill Medical College of Cornell UniversityNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)CompletedHIV Infections | Insulin Resistance | Body Weight Changes | Metabolic Syndrome X | HIV-Associated Lipodystrophy SyndromeUnited States
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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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Wuerzburg University HospitalAcademisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA); St George... and other collaboratorsRecruitingFabry Disease | Rare Diseases | Hypertrophic Cardiomyopathy | Fabry Disease, Cardiac VariantGermany
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LMU KlinikumUniversity of Pisa; German Federal Ministry of Education and Research; European...RecruitingMitochondrial Diseases | MDS | Mitochondrial Myopathies | MELAS Syndrome | MIDD | Kearns-Sayre Syndrome | MERRF Syndrome | Barth Syndrome | Leigh Syndrome | MNGIE | LHON | Pearson Syndrome | NARP Syndrome | Coenzyme Q10 Deficiency | SANDO | SCAE | MIRAS | CPEOAustria, Germany, Italy
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National Cancer Institute (NCI)RecruitingFanconi Anemia | Dyskeratosis Congenita | Diamond Blackfan Anemia | Shwachman Diamond Syndrome | Inherited Bone Marrow Failure Syndrome, Aplastic AnemiaUnited States
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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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Eunice Kennedy Shriver National Institute of Child...Completed
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University of NebraskaUniversity of Colorado, Denver; University of Pittsburgh; Children's Hospital...Completed
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CENTOGENE GmbH RostockWithdrawnFructose Metabolism, Inborn Errors | Glycogen Storage Disease Type II | Glycogen Storage Disease | Glycogen Storage Disease Type V | Glycogen Storage Disease Type I | Glycogen Storage Disease Type III | Glycogen Storage Disease Type VII | Glycogen Storage Disease Type IV | Glycogen Storage Disease Type... and other conditionsGermany, India, Sri Lanka
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Caroline Michaela KistorpSanofiNot yet recruitingChronic Kidney Diseases | Fabry DiseaseDenmark
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Wuerzburg University HospitalTakedaEnrolling by invitationLysosomal Storage Diseases | Fabry Disease | Fabry Disease, Cardiac Variant | HCM - Hypertrophic Cardiomyopathy | Anderson Fabry DiseaseGermany
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dr. Laura C. G. de Graaff-HerderRecruitingDisorders of Sex Development | Congenital Adrenal Hyperplasia | Tuberous Sclerosis | Kallmann Syndrome | Prader-Willi Syndrome | Neurofibromatosis | Rett Syndrome | 22q11 Deletion Syndrome | Turner Syndrome | Noonan Syndrome | Allan-Herndon-Dudley Syndrome | Saethre-Chotzen Syndrome | Congenital Hypopituitarism | Cornelia... and other conditionsNetherlands
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CENTOGENE GmbH RostockWithdrawnChronic Kidney Disease | Hearing Loss | Angiokeratomas | Ocular AbnormalitiesSri Lanka, India, Germany
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Melbourne HealthSanofiWithdrawnLysosomal Storage Diseases | Fabry Disease | Niemann-Pick Disease, Type C | Gaucher DiseaseAustralia
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XperiomeThe Touro College and University SystemWithdrawnHemophilia A | Hemophilia B | Idiopathic Pulmonary Fibrosis | Myasthenia Gravis | Cystic Fibrosis | Sickle Cell Disease
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Eunice Kennedy Shriver National Institute of Child...RecruitingCHILD Syndrome | Smith Lemli Opitz Syndrome | Lathosterolosis | DesmosterolosisUnited States
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Foundation Fighting BlindnessRecruitingRetinitis Pigmentosa | Choroideremia | Usher Syndrome | Batten Disease | Leber Congenital Amaurosis | Goldmann-Favre Syndrome | Kearns-Sayre Syndrome | Retinal Disease | Bardet-Biedl Syndrome | Stargardt Disease | Cone Dystrophy | Retinoschisis | Achromatopsia | Gyrate Atrophy | Eye Diseases Hereditary | Bassen-Kornzweig... and other conditionsUnited States
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New York Medical CollegeCompletedMucopolysaccharidosis I | Myelodysplastic Syndrome | Acute Lymphocytic Leukemia | Acute Myelogenous Leukemia | Niemann-Pick Disease | Mucopolysaccharidosis VI | Wolman Disease | Adrenoleukodystrophy | Batten Disease | Metachromatic Leukodystrophy | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Fucosidosis | Gaucher... and other conditionsUnited States
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Massachusetts General HospitalCompletedFabry Disease | Mitochondrial Disease | Small Fiber Neuropathy | Ehlers Danlos SyndromeUnited States
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Institute of Hematology & Blood Diseases HospitalRecruitingLymphoma | Acute Myeloid Leukemia | Leukemia | Hemophilia A | Hemophilia B | Hemophilia | Multiple Myeloma | Myelodysplastic Syndrome | Bone Marrow Transplantation | MDS | Aplastic Anemia | Bleeding Disorder | Myeloma, Multiple | Myelomas, Multiple | Leukemias, Acute Myeloid | Myeloid Leukemias, Acute | Hemophilia As | Hemophilia... and other conditionsChina
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National Taiwan University HospitalUnknownHypertension | Diabetes | Dementia | Alzheimer Disease | Fabry Disease | Dry Eye Syndrome | Metabolic Disease | Healthy Individuals | Ocular Rosacea | Limbal Insufficiency | Phlyctenulosis | Graft Versus Host Disease in EyeTaiwan
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Baylor College of MedicineThe Methodist Hospital Research Institute; Center for Cell and Gene Therapy...Active, not recruitingAcute Myeloid Leukemia | Acute Lymphoblastic Leukemia | Non Hodgkin Lymphoma | Myelodysplastic Syndrome | Chronic Myelogenous Leukemia | Hemophagocytic Lymphohistiocytosis | Epstein Barr Virus Infection | X-linked Lymphoproliferative Disease | Hemophagocytic Syndrome | Familial Hemophagocytic LymphohistiocytosisUnited States
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University of Colorado, DenverRecruitingHearing Loss | Smith-Lemli-Opitz Syndrome | Cone-Rod DystrophyUnited States
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ResMedClinical Trial Center North Hamburg Germany; CRI-The Clinical Research Institute...TerminatedPulmonary Disease, Chronic Obstructive | Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Duchenne Muscular Dystrophy | Myotonic Dystrophy | Spinal Cord Injury | Obesity Hypoventilation Syndrome | Kyphoscoliosis | Congenital Central Hypoventilation Syndrome | MyopathiesGermany