Clinical Trials on Autosomal Recessive Hypophosphatemic Rickets
Total 101 results
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Kyowa Kirin, Inc.Kyowa Kirin Co., Ltd.CompletedX-linked HypophosphatemiaNetherlands, United States, United Kingdom, France
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Ultragenyx Pharmaceutical IncKyowa Kirin Co., Ltd.AvailableX-linked Hypophosphatemia | Tumor-Induced Osteomalacia
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Orthopedic Hospital Vienna SpeisingCompleted
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Yale UniversityCompleted
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Medialis Ltd.Metabolic Support UKCompletedX-linked Hypophosphatemia (XLH)United Kingdom
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Rambam Health Care CampusCompletedAsthma | Vitamin D Resistant RicketsIsrael
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Wake Forest University Health SciencesCompletedHypophosphatemia | X-linked Hypophosphatemia | Left Ventricular Hypertrophy | Renin-angiotensin SystemUnited States
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University of GuelphMcMaster UniversityRecruitingAutosomal Recessive Disorder (Genetic Carriers of PKU)Canada
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University of GuelphMcMaster University; Laval UniversityNot yet recruitingAutosomal Recessive Disorder (Genetic Carriers of PKU)Canada
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National Institute of Dental and Craniofacial Research...TerminatedOsteomalaciaUnited States
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National Heart, Lung, and Blood Institute (NHLBI)CompletedParkinson Disease 6, Early-Onset | Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human | Parkinson Disease Autosomal Recessive, Early Onset | Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1United States
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Otsuka Pharmaceutical Development & Commercialization...RecruitingAutosomal Recessive Polycystic Kidney (ARPKD)United States, United Kingdom, Belgium, Poland, France, Germany, Italy
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Wayne State UniversityUnknownAneuploidy | Autosomal Recessive DisorderUnited States
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Otsuka Pharmaceutical Development & Commercialization...RecruitingAutosomal Recessive Polycystic Kidney Disease (ARPKD)United States, Belgium, Spain, Germany, United Kingdom, Poland
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Kadmon Corporation, LLCCompletedPolycystic Kidney, Autosomal RecessiveUnited States
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Newcastle-upon-Tyne Hospitals NHS TrustRecruitingBethlem Myopathy | Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2 | Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive | Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant | Bethlem Myopathy 1, Autosomal Recessive | UCMD | BTHLM1United Kingdom
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University Hospital, Strasbourg, FranceRecruitingAutosomal Recessive Cerebellar AtaxiaFrance
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UK Kidney AssociationRecruitingVasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditionsUnited Kingdom
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Ludwig-Maximilians - University of MunichCompletedInclusion Body Myositis, Sporadic | Inclusion Body Myopathy, Autosomal-recessive | Inclusion Body Myopathy, Autosomal-dominant | Congenital Cataracts, Facial Dysmorphism, And NeuropathyGermany
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Murdoch Childrens Research InstituteUniversity of Sydney; Sydney Children's Hospitals Network; Women's and Children... and other collaboratorsActive, not recruitingAutosomal Recessive Disorder | X-Linked Genetic DiseasesAustralia
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Origin BiosciencesCompletedMolybdenum Cofactor Deficiency (MoCD) | Rare Autosomal Recessive Disorder | Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)United States
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National Taiwan University HospitalUnknownHypophosphatemiaTaiwan
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Assistance Publique - Hôpitaux de ParisCompletedSpinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia, Autosomal Recessive 3 | Episodic Ataxia, Type 7France
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Krystal Biotech, Inc.Not yet recruitingAutosomal Recessive IchthyosisUnited States
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Alkeus Pharmaceuticals, Inc.RecruitingStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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Alkeus Pharmaceuticals, Inc.Enrolling by invitationStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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National Medical Research Center for Therapy and...Moscow State University of Medicine and DentistryRecruitingMedication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditionsRussian Federation
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CSL BehringCompletedCommon Variable Immunodeficiency | X-linked Agammaglobulinemia | Autosomal Recessive AgammaglobulinemiaGermany, United Kingdom, France, Italy, Poland, Romania, Spain, Sweden, Switzerland
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Clinic for Special ChildrenRecruitingMyopathy | Myopathy; Hereditary | Myopathies, Nemaline | TNNT1-associated Myopathy | Infantile-onset Nemaline Rod Myopathy | Myopathy, Rod | Amish Nemaline Myopathy | Nemaline Myopathy 5 | NEM5 | Genetic Muscle Disease | Recessive Hereditary Disorder (Autosomal) | ANMUnited 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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Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
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Assistance Publique - Hôpitaux de ParisNot yet recruitingAutosomal Recessive Congenital Ichthyosis | Epidermolytic IchthyosisFrance
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Yale UniversityNational Center for Advancing Translational Sciences (NCATS)SuspendedRickets | Hypophosphatemia | Hypercalciuria | XLH | HHRHUnited States
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Juan PascualNational Institute of Neurological Disorders and Stroke (NINDS)CompletedGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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Université de SherbrookeAtaxia Charlevoix-Saguenay FoundationRecruitingAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
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Northwestern UniversityIcahn School of Medicine at Mount SinaiCompletedNetherton Syndrome | Ichthyosis | Lamellar Ichthyosis | Autosomal Recessive Congenital Ichthyosis | Congenital Ichthyosiform Erythroderma | Epidermolytic IchthyosisUnited States
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Élise DuchesneMuscular Dystrophy CanadaCompletedAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
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University of Texas Southwestern Medical CenterRecruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1 | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport DefectUnited States
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NYU Langone HealthCompletedAnxiety Disorders | Familial Dysautonomia | Dysthymia | Paroxysmal Hypertension | Autosomal Recessive DiseaseUnited States
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Lisa M. Guay-WoodfordNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)RecruitingNephronophthisis | Joubert Syndrome | Bardet Biedl Syndrome | Autosomal Recessive Polycystic Kidney Disease | Congenital Hepatic Fibrosis | Hepato/Renal Fibrocystic Disease | Meckel-Gruber Syndrome | Caroli Syndrome | Oro-Facial-Digital Syndrome Type I | Glomerulocystic Kidney DiseaseUnited States
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Children's Hospital of Orange CountyActive, not recruitingNeuronal Ceroid-Lipofuscinoses | Neuronal Ceroid Lipofuscinosis CLN2 | Spinocerebellar Ataxia, Autosomal Recessive 7United States
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Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute...CompletedSevere Combined Immunodeficiency | Adenosine Deaminase Deficiency | Immune System Disorder | Autosomal Recessive Disorder | Purine-Nucleoside Phosphorylase Deficiency | Severe Combined Immunodeficiency With Absence of T and B Cells | X-Linked Severe Combined ImmunodeficiencyUnited States
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Université du Québec à ChicoutimiMcGill University; Université de Sherbrooke; University of Alberta; University... and other collaboratorsRecruitingAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | Spastic Paraplegia 7Canada
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Cadent TherapeuticsWithdrawnSpinocerebellar Ataxia Type 3 | Spinocerebellar Ataxias | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia Type 6 | Spinocerebellar Ataxia Type 10 | Spinocerebellar Ataxia Type 7 | Spinocerebellar Ataxia Type 8 | Spinocerebellar Ataxia Type 17 | ARCA1 - Autosomal Recessive...United 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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Centre Hospitalier Universitaire de LiegeSanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaboratorsRecruitingCongenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditionsBelgium
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RTI InternationalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationPrimary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditionsUnited States
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Assistance Publique - Hôpitaux de ParisNot yet recruitingHemophilia A | Hemophilia B | Cystic Fibrosis | Sickle Cell Disease | Muscular Dystrophy, Duchenne | Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy | Autosomal Recessive Polycystic Kidney Disease | Neurofibromatosis-Noonan Syndrome | Muscular Dystrophy, Becker | Invasive PreNatal Diagnosis in a... and other conditionsFrance