Thomsen and Becker disease
Thomsen and Becker disease
Explore linked clinical trials. Standard reference: MONDO:000971011 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| A Natural History Study of RYR1-Related Disorders | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Thomsen and Becker disease, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, musculoskeletal system disorder, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease | Recruiting | Not stated | 2026-09-11 | NCT06287762 | |
| VirtualPark_Pediatric | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, Thomsen and Becker disease, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular disease caused by qualitative or quantitative defects of dystrophin | Recruiting | Not applicable | 2026-08-11 | NCT07580365 | |
| Muscle Health Measurements Using Electrical Impedance Myography | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Distal Myopathies, Muscular Disorders, Atrophic, Thomsen and Becker disease, congenital myopathy, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myofibrillar myopathy, myositis disease, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease | Recruiting | Not stated | 2026-04-03 | NCT07502989 | |
| Molecular and Genetic Studies of Congenital Myopathies | Congenital Fiber Type Disproportion, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Minicore Myopathy with External Ophthalmoplegia, Thomsen and Becker disease, central core myopathy, centronuclear myopathy, congenital structural myopathy, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, musculoskeletal system disorder, myotonic syndrome, nemaline myopathy, nervous system disorder, neurodegenerative disease, neuromuscular disease | Recruiting | Not stated | 2026-03-25 | NCT00272883 | |
| Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Duchenne muscular dystrophy, Muscular Disorders, Atrophic, Thomsen and Becker disease, X-linked disease, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic dystrophy, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease | Recruiting | Not applicable | 2026-02-25 | NCT07415837 | |
| Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Thomsen and Becker disease, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, musculoskeletal system disorder, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease | Recruiting | Not stated | 2025-08-24 | NCT07138963 | |
| Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases | Becker muscular dystrophy, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Duchenne muscular dystrophy, Lysosomal Storage Diseases, Nervous System, Muscular Disorders, Atrophic, Nutritional and Metabolic Diseases, Thomsen and Becker disease, X-linked disease, brain disorder, central nervous system disorder, congenital myopathy, disorder of glycogen metabolism, glycogen storage disease II, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal storage disease, metabolic disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease | Recruiting | Not applicable | 2025-02-18 | NCT06833489 | |
| The Prevalence of RYR1-related Disease | Body Temperature Changes, Congenital Fiber Type Disproportion, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hyperthermia, Intraoperative Complications, Minicore Myopathy with External Ophthalmoplegia, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Postoperative Complications, Signs and Symptoms, Thomsen and Becker disease, central core myopathy, centronuclear myopathy, congenital myopathy, congenital structural myopathy, hereditary disease, inherited neurodegenerative disorder, malignant hyperthermia of anesthesia, muscle tissue disorder, musculoskeletal system disorder, myotonic syndrome, nemaline myopathy, nervous system disorder, neurodegenerative disease, neuromuscular disease | Not yet recruiting | Not stated | 2025-01-24 | NCT06791369 | |
| Nemaline Myopathy Clinical Research Network (NM-CTRN) | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Thomsen and Becker disease, congenital structural myopathy, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, musculoskeletal system disorder, myotonic syndrome, nemaline myopathy, nervous system disorder, neurodegenerative disease, neuromuscular disease | Not yet recruiting | Not stated | 2025-01-14 | NCT06774703 | |
| The Natural History and Muscle Fatigability of Patients With Congenital Myopathies. | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Minicore Myopathy with External Ophthalmoplegia, Thomsen and Becker disease, central core myopathy, centronuclear myopathy, congenital structural myopathy, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, musculoskeletal system disorder, myotonic syndrome, nemaline myopathy, nervous system disorder, neurodegenerative disease, neuromuscular disease | Recruiting | Not stated | 2024-08-19 | NCT06157268 | |
| Congenital Muscle Disease Study of Patient and Family Reported Medical Information | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Emery-Dreifuss muscular dystrophy, Eye Diseases, Hereditary, Malformations of Cortical Development, Group II, Muscular Disorders, Atrophic, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Thomsen and Becker disease, Wieacker-Wolff syndrome, X-linked disease, autosomal recessive limb-girdle muscular dystrophy type 2G, autosomal recessive limb-girdle muscular dystrophy type 2M, brain disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cobblestone lissencephaly, congenital muscular dystrophy due to integrin alpha-7 deficiency, congenital myasthenic syndrome, epilepsy, eye disorder, hereditary disease, inherited neurodegenerative disorder, intellectual disability, limb-girdle muscular dystrophy, lissencephaly spectrum disorders, muscle tissue disorder, muscular dystrophy, muscular dystrophy-dystroglycanopathy, type A, musculoskeletal system disorder, myotonic syndrome, nervous system disorder, neurodegenerative disease, neurodevelopmental disorder, neuromuscular disease, neuromuscular junction disease, psychiatric disorder | Recruiting | Not stated | 2021-08-09 | NCT01403402 |