Clinical Trials on Bethlem Myopathy 1, Autosomal Recessive
Total 104 results
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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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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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Ruth SalimUnknown
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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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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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Rigshospitalet, DenmarkCompleted
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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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Rigshospitalet, DenmarkUnknownRecessive Gene MyopathiesDenmark
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Istituto Ortopedico RizzoliCompletedBethlem Myopathy | Ullrich Congenital Muscular DystrophyItaly
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Newcastle-upon-Tyne Hospitals NHS TrustRecruitingX-linked Myotubular Myopathy | Centronuclear Myopathy | Myotubular Myopathy | Myotubular Myopathy 1 | Myotubular (Centronuclear) Myopathy | Centronuclear Myopathy, X-LinkedUnited Kingdom
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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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Armgo Pharma, Inc.National Institute of Nursing Research (NINR); National Institute of Neurological... and other collaboratorsCompletedRYR-1 MyopathyUnited 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 Nursing Research (NINR)Not yet recruitingRyanodine Receptor 1-Related Myopathy | Ryanodine Receptor 1 Related DisordersUnited States
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Kadmon Corporation, LLCCompletedPolycystic Kidney, Autosomal RecessiveUnited States
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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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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 Hospital, Strasbourg, FranceRecruitingAutosomal Recessive Cerebellar AtaxiaFrance
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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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Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
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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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Myotonic Dystrophy FoundationRecruitingMyotonic Dystrophy | Myotonic Dystrophy 1 | Steinert's Disease | Congenital Myotonic Dystrophy | PROMM (Proximal Myotonic Myopathy) | Steinert Disease | Dystrophia Myotonica 1 | Myotonic Dystrophy 2 | Dystrophia Myotonica | Dystrophia Myotonica 2 | Myotonia Dystrophica | Myotonic Dystrophy, Congenital | Myotonic... and other conditionsUnited 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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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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Medtronic VascularCompletedCoronary Artery Disease, Autosomal Dominant, 1United States
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Medical University of ViennaUnknownPolycystic Kidney, Type 1 Autosomal Dominant Disease | Polycystic Kidney, Type 2 Autosomal Dominant DiseaseAustria
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First Affiliated Hospital of Fujian Medical UniversityRecruiting
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Changlin MeiThe First Affiliated Hospital with Nanjing Medical University; The First Affiliated... and other collaboratorsCompletedPolycystic Kidney, Type 1 Autosomal Dominant DiseaseChina
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Krystal Biotech, Inc.Not yet recruitingAutosomal Recessive IchthyosisUnited States
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Mitsubishi Tanabe Pharma CorporationCompletedHTLV-1-Associated Myelopathy (HAM)Japan
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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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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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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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Assistance Publique - Hôpitaux de ParisNot yet recruitingAutosomal Recessive Congenital Ichthyosis | Epidermolytic IchthyosisFrance
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Pedreira, Érika, M.D.CompletedBalance | HAM/TSP | Functional Mobility | HTLV-1 Secondary Myelopathy | Gait BalanceBrazil
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TakedaTerminatedNarcolepsy Type 1 (NT 1)United States, Italy, Finland, Canada, Hungary, Czechia, France, Japan, Korea, Republic of, Spain
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Reata, a wholly owned subsidiary of BiogenCompletedFocal Segmental Glomerulosclerosis | IgA Nephropathy | Autosomal Dominant Polycystic Kidney | CKD Associated With Type 1 DiabetesUnited States
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Kyowa Kirin Co., Ltd.TerminatedHTLV-1 Associated MyelopathyJapan
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Universidade Metodista de PiracicabaUniversidade do Estado do ParáRecruitingHuman T-Lymphotropic Virus Type 1 Associated MyelopathyBrazil
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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University of RochesterNational Institute of Neurological Disorders and Stroke (NINDS)RecruitingMuscular Dystrophy | Myotonic Dystrophy Type 2 | Myotonic Dystrophy Type 1 | Myotonic Dystrophy | Facioscapulohumeral Muscular Dystrophy | Steinert's Disease | Congenital Myotonic Dystrophy | PROMM (Proximal Myotonic Myopathy) | Myotonic Muscular DystrophyUnited States
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Harmony Biosciences, LLCActive, not recruitingMyotonic Dystrophy 1 | Excessive Daytime SleepinessUnited States, Canada
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Laval UniversityCompleted
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University of Dublin, Trinity CollegeSt. James's Hospital, IrelandSuspendedNarcolepsy | Hypersomnolence | Narcolepsy Type 1 | Narcolepsy Without Cataplexy | Narcolepsy With Cataplexy | Narcolepsy 1 | Narcolepsy and HypersomniaIreland