Clinical Trials on Hypophosphatemic Rickets, X-Linked Dominant
Total 1556 results
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University of MinnesotaGenzyme, a Sanofi CompanyWithdrawnNeuropathic Pain | Fabry DiseaseUnited States
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University of WashingtonNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaboratorsUnknown
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University of RostockCompletedStroke, Acute | Cerebrovascular Accident | Cerebral StrokeGermany, Poland
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Assistance Publique - Hôpitaux de ParisCompletedOculocerebrorenal SyndromeFrance
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Grifols Therapeutics LLCCompletedCommon Variable Immunodeficiency | Severe Combined Immunodeficiency | Wiskott-Aldrich Syndrome | Agammaglobulinemia | Immunologic Deficiency SyndromeCanada, United States
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National Institute of Allergy and Infectious Diseases...CompletedChronic Granulomatous Disease | Leukocyte Disorder | Job's Syndrome | Chediak Higashi SyndromeUnited States
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Fairview University Medical CenterUnknownHemophagocytic Lymphohistiocytosis | Graft Versus Host Disease | Chediak-Higashi Syndrome | Virus-Associated Hemophagocytic Syndrome | X-Linked Lymphoproliferative Syndrome | Familial Erythrophagocytic LymphohistiocytosisUnited States
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Baylor College of MedicineChildren's National Research InstituteRecruitingOrnithine Transcarbamylase Deficiency | Urea Cycle Disorder | Carbamyl Phosphate Synthetase Deficiency | Argininosuccinic Aciduria | Hyperargininemia | Citrullinemia 1 | ARGI Deficiency | ASL Deficiency | ASS Deficiency | NAGS DeficiencyUnited States
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Mayo ClinicRecruitingCystinuria | Primary Hyperoxaluria | Dent Disease | APRT DeficiencyUnited States
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Amicus TherapeuticsEngage Health Inc.CompletedFabry DiseaseUnited States
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University Hospital, BordeauxCompletedChronic Pain | Fabry's DiseaseFrance
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Baylor Research InstituteNational Institute of Neurological Disorders and Stroke (NINDS)Completed
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Universität Duisburg-EssenWeinmann Geräte für Medizin GmbH + Co. KGCompletedDuchenne Muscular Dystrophy | Spinal Muscular Atrophy | Chronic Respiratory InsufficiencyGermany
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Johannes Gutenberg University MainzUnknownMucopolysaccharidosis | Fabry DiseaseGermany
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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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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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Francisco Marín OrtuñoHospital General Universitario Elche; Hospital Universitario San Juan de AlicanteUnknownRight Ventricular Hypertrophy | Fabry Disease, Cardiac Variant
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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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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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RTI InternationalUniversity of North Carolina, Chapel HillEnrolling by invitationTuberous Sclerosis | Down Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Rett Syndrome | Turner Syndrome | Williams Syndrome | Angelman Syndrome | Chromosome 22q11.2 Deletion Syndrome | Klinefelter Syndrome | Phelan-McDermid Syndrome | Dup15Q Syndrome | Smith Magenis SyndromeUnited States
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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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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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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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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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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