Clinical Trials on X-koblet kreatinmangel
Total 1802 results
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Johannes Gutenberg University MainzUnknownMucopolysaccharidosis | Fabry DiseaseGermany
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University of RostockUnknownGrowth Disorders | Hypophosphatemic Rickets | Somatropin TherapyGermany
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Masonic Cancer Center, University of MinnesotaCompletedNiemann-Pick Disease | Wolman Disease | Adrenoleukodystrophy | Batten Disease | Metachromatic Leukodystrophy | GM1 Gangliosidosis | Fucosidosis | Globoid Cell Leukodystrophy | Gaucher's Disease | Tay Sachs Disease | Sandhoff DiseaseUnited States
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Eunice Kennedy Shriver National Institute of Child...RecruitingAndrogen Insensitivity Syndrome | Metabolic Parameters in AIS, CAIS, PAIS and MAIS | Tumor Formation in AIS, CAIS, PAIS and MAIS | Sexual Function AIS, CAIS, PAIS and MAISUnited States
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University Hospital Birmingham NHS Foundation TrustNorthern Care Alliance NHS Foundation Trust; Cambridge University Hospitals... and other collaboratorsActive, not recruitingArrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease (RaILRoAD)Fabry DiseaseUnited Kingdom, Australia
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University of AarhusCompletedX-linked Hypophosphatemia | Hereditary HypophosphatemiaDenmark
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Ultragenyx Pharmaceutical IncTerminatedWilson Disease | Ornithine Transcarbamylase Deficiency | Glycogen Storage Disease Type IASpain, United Kingdom, Canada, United States, Brazil
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Medical College of WisconsinNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute... and other collaboratorsCompletedChronic Granulomatous Disease | Hemophagocytic Lymphohistiocytosis | Leukocyte Adhesion Deficiency | Chronic Active Epstein-Barr Virus Infection | HIGM-1 | IPEXUnited States, Canada
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CENTOGENE GmbH RostockCompleted
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Hospices Civils de LyonUnknownEnd Stage Renal Disease | Fabry Disease | Renal DialysisFrance
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Baylor Research InstituteCompleted
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Centre Hospitalier Universitaire de NiceUnknown
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Fondazione Policlinico Universitario Agostino Gemelli...Recruiting
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AbiliTech Medical Inc.Richard M. Schulze Family FoundationRecruitingCerebral Palsy | Muscular Dystrophies | Duchenne Muscular Dystrophy | Becker Muscular Dystrophy | Spinal Muscular Atrophy | Limb Girdle Muscular Dystrophy | FSHDUnited States
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University of MinnesotaNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); Washington... and other collaboratorsRecruiting
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Mendel TuchmanChildren's Hospital of Philadelphia; University of California, Los Angeles; Icahn... and other collaboratorsCompletedMethylmalonic Acidemia | Carbamoyl-Phosphate Synthase I Deficiency Disease | Propionic Acidemia, Type I and/or Type II | Ornithine Carbamoyltransferase DeficiencyUnited States
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University of AarhusLundbeck Foundation; AP Moeller Foundation; The Korning Foundation DenmarkCompletedAortic Aneurysm | Turner Syndrome | Klinefelter Syndrome | Triple X Syndrome | 47 XYY SyndromeDenmark
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Francisco Marín OrtuñoHospital General Universitario Elche; Hospital Universitario San Juan de AlicanteUnknownRight Ventricular Hypertrophy | Fabry Disease, Cardiac Variant
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Joanne Kurtzberg, MDThe Marcus FoundationRecruitingMucopolysaccharidosis II | Brain Diseases, Metabolic, Inborn | Adrenoleukodystrophy | Batten Disease | Leukodystrophy, Metachromatic | Leukodystrophy, Globoid Cell | Alpha-Mannosidosis | Tay-Sachs Disease | Pelizaeus-Merzbacher Disease | Sandhoff Disease | Neimann Pick Disease | Sanfilippo MucopolysaccharidosesUnited States
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Laurent ServaisSYSNAVRecruitingDuchenne Muscular Dystrophy | Myotonic Dystrophy 1 | Congenital Muscular Dystrophy | Centronuclear Myopathy | Charcot-Marie-Tooth | Fascioscapulohumeral Muscular DystrophyBelgium
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Chang Gung Memorial HospitalRecruitingFabry DiseaseTaiwan
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Wake Forest University Health SciencesCompletedHypophosphatemia | X-linked Hypophosphatemia | Left Ventricular Hypertrophy | Renin-angiotensin SystemUnited States
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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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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 Colorado, DenverRecruitingKlinefelter Syndrome | Trisomy X | XYY Syndrome | XXXY and XXXXY Syndrome | Xxyy Syndrome | Xyyy Syndrome | Xxxx Syndrome | Xxxxx Syndrome | Xxxyy Syndrome | Xxyyy Syndrome | Xyyyy Syndrome | Male With Sex Chromosome MosaicismUnited States
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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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Mayo ClinicRecruitingCystinuria | Hyperoxaluria | Dent Disease | Lowe Syndrome | Adenine Phosphoribosyltransferase DeficiencyUnited States, Canada, Iceland, Israel
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Oregon Health and Science UniversityTerminatedSmith-Lemli-Opitz SyndromeUnited States
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Masonic Cancer Center, University of MinnesotaTerminatedHematologic Diseases | Hemophagocytic Lymphohistiocytosis | Immunologic Diseases | Chediak-Higashi Syndrome | X-Linked Lymphoproliferative Disorders | Griscelli Syndrome | Langerhans-Cell HistiocytosisUnited States
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Masonic Cancer Center, University of MinnesotaCompletedImmunologic Deficiency Syndromes | Hemophagocytic Lymphohistiocytosis | Chediak-Higashi Syndrome | X-Linked Lymphoproliferative Disorders | Griscelli Syndrome | Langerhans-Cell HistiocytosisUnited 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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CENTOGENE GmbH RostockCompletedScoliosis | Muscular Atrophy | Duchenne Muscular Dystrophy | Lordosis | Muscular Weakness | Increased Lordosis/Scoliosis | Hyporeflexia | Red-Green Color BlindnessEgypt, India, Albania, Pakistan, Georgia, Lebanon, Romania, Sri Lanka
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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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Qilu Hospital of Shandong UniversityRecruitingFabry Disease | Hypertrophic Cardiomyopathy | Left Ventricular HypertrophyChina
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University Hospital, MontpellierRecruiting
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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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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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Albert Einstein College of MedicineEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationMucopolysaccharidosis II | Fabry Disease | Niemann-Pick Disease, Type C | Mucopolysaccharidosis VI | Lysosomal Acid Lipase Deficiency | Metachromatic Leukodystrophy | Gaucher Disease | Cerebrotendinous Xanthomatosis | Mucopolysaccharidosis IV A | GM1 Gangliosidosis | Mucopolysaccharidosis VII | Acid Sphingomyelinase... and other conditionsUnited States
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Fairview University Medical CenterUnknownMucopolysaccharidosis I | Niemann-Pick Disease | Mucopolysaccharidosis VI | Wolman Disease | Adrenoleukodystrophy | Metachromatic Leukodystrophy | Pulmonary Complications | Fucosidosis | Globoid Cell Leukodystrophy | Gaucher's Disease | Mannosidosis | I Cell DiseaseUnited States
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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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Boston Children's HospitalCompletedSmith-Lemli-Opitz SyndromeUnited States