Clinical Trials on Autosomal Recessive Disorder
Total 143650 results
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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 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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Wayne State UniversityUnknownAneuploidy | Autosomal Recessive DisorderUnited 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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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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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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University Hospital, Strasbourg, FranceRecruitingAutosomal Recessive Cerebellar AtaxiaFrance
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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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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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CSL BehringCompletedCommon Variable Immunodeficiency | X-linked Agammaglobulinemia | Autosomal Recessive AgammaglobulinemiaGermany, United Kingdom, France, Italy, Poland, Romania, Spain, Sweden, Switzerland
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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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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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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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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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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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University College, LondonWashington University School of Medicine; University of Washington; Alzheimer... and other collaboratorsNot yet recruitingAlzheimer Disease | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 1 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 2 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Amyloid Precursor Protein (Disorder)
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NYU Langone HealthCompletedAnxiety Disorders | Familial Dysautonomia | Dysthymia | Paroxysmal Hypertension | Autosomal Recessive DiseaseUnited States
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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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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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Emory UniversityPKD FoundationCompleted
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Otsuka Pharmaceutical Europe LtdUnknownAutosomal Dominant Polycystic Kidney DiseaseSpain, United Kingdom, Germany, France, Belgium, Switzerland, Austria
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Mario Negri Institute for Pharmacological ResearchOtsuka Pharmaceutical Italy S.r.l.CompletedAutosomal Dominant Polycystic Kidney DiseaseItaly
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Mayo ClinicUniversity of Kansas Medical CenterCompletedAutosomal Dominant Polycystic Kidney DiseaseUnited States
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CHU de ReimsCompletedAutosomal Dominant Polycystic Kidney DiseaseFrance
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Otsuka Pharmaceutical Development & Commercialization...CompletedAutosomal Dominant Polycystic Kidney DiseaseUnited States
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Regional Hospital HolstebroAarhus University HospitalCompletedAutosomal Dominant Polycystic Kidney DiseaseDenmark
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University Hospital, BrestUnknownAutosomal Dominant Polycystic Kidney DiseaseFrance
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Federico II UniversityCompletedAutosomal Dominant Polycystic Kidney Disease
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University Medical Center GroningenRadboud University Medical Center; Erasmus Medical Center; Leiden University...UnknownAutosomal Dominant Polycystic Kidney Disease (ADPKD)Netherlands
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Mario Negri Institute for Pharmacological ResearchCompletedAutosomal Dominant Polycystic Kidney Disease (ADPKD)Italy
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Kadmon Corporation, LLCTerminatedAutosomal Dominant Polycystic Kidney Disease (ADPKD)United States
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Kyorin UniversityUnknown
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University of North Carolina, Chapel HillNational Institute of General Medical Sciences (NIGMS)CompletedRenal Disease | Autosomal Dominant Polycystic Kidney Disease | ADPKDUnited States
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Assistance Publique - Hôpitaux de ParisIPSEN pharmaceutical company, Boulogne-Billancourt, FranceCompletedAutosomal Dominant Polycystic Kidney Disease (ADPKDFrance
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Cambridge University Hospitals NHS Foundation TrustAddenbrookes Charitable Trust; PKD Charity; British Renal Society & British Kidney...CompletedAutosomal Dominant Polycystic Kidney DiseaseUnited Kingdom
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University of PittsburghNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National...CompletedAutosomal Dominant Polycystic Kidney DiseaseUnited States
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Andreas L. SerraUnknownAutosomal Dominant Polycystic Kidney DiseaseFrance, Switzerland, Germany, Netherlands, Belgium, Czech Republic, Italy, Spain, Turkey, United Kingdom
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AceLink Therapeutics, Inc.Novotech (Australia) Pty LimitedCompletedAutosomal Dominant Polycystic KidneyAustralia
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Vertex Pharmaceuticals IncorporatedRecruitingAutosomal Dominant Polycystic Kidney Disease (ADPKD)United States
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The University of QueenslandRecruitingAutosomal Dominant Polycystic Kidney DiseaseAustralia
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Mayo ClinicPolycystic Kidney Disease FoundationRecruiting
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University of CologneRecruitingADPKD (Autosomal Dominant Polycystic Kidney Disease)Germany