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NCT07502989
- Conditions
- Congenital Myopathy, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Distal Myopathies, +16 more
- Locations
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- Beth Israel Deaconess Medical Center Boston, Massachusetts, United States
NCT00272883
- Conditions
- Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, +19 more
- Locations
-
- Genetics Division, Boston Children's Hospital Boston, Massachusetts, United States
NCT07415837
- Conditions
- Congenital Myopathies, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Duchenne / Becker Muscular Dystrophy, +16 more
- Locations
-
- CHU de Clermont-Ferrand Clermont-Ferrand, France
NCT06287762
- Conditions
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Heredodegenerative Disorders, Nervous System, +9 more
- Locations
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- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT07138963
- Conditions
- Congenital Muscular Dystrophies, Congenital Myopathies, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +14 more
- Locations
-
- Ain Shams University Cairo, Egypt
Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
NCT06833489
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +27 more
- Locations
-
- Hopital Timone Marseille, France
NCT06157268
- Conditions
- Central Core Disease, Centronuclear Myopathy, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +15 more
- Locations
-
- Radboudumc Nijmegen, Gelderland, Netherlands
- UMC Utrecht Utrecht, Netherlands
NCT01403402
- Conditions
- Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan), +89 more
- Locations
-
- Congenital Muscle Disease International Registry (www.cmdir.org) Lakewood, California, United States
Not Yet Recruiting
VirtualPark_Pediatric
NCT07580365
- Conditions
- Congenital Myopathies, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dystrophinopathy, +11 more
- Locations
-
- IRCCS E. Medea - La Nostra Famiglia Bosisio Parini, LC, Italy
- IRCCS Fondazione Stella Maris Pisa, PI, Italy
- IRCCS Fondazione Mondino Pavia, PV, Italy
- Fondazione Don Gnocchi - Centro "S. Maria al Mare" Salerno, SA, Italy
Not Yet Recruiting
The Prevalence of RYR1-related Disease
NCT06791369
- Conditions
- Body Temperature Changes, Central Core Disease, Centronuclear Myopathy, +26 more
- Locations
-
- King's College London London, United Kingdom
Not Yet Recruiting
Nemaline Myopathy Clinical Research Network (NM-CTRN)
NCT06774703
- Conditions
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Heredodegenerative Disorders, Nervous System, +10 more
- Locations
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- Stanford University/Lucile Packard Children's Hospital Palo Alto, California, United States
- National Institute of Health Bethesda, Maryland, United States
- Boston Children's Hospital Boston, Massachusetts, United States
- St Jude Children's Research Hospital Memphis, Tennessee, United States
NCT02789059
- Conditions
- Amyotrophic Lateral Sclerosis, Central Nervous System Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +19 more
- Locations
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- Hôpital Amiens Nord, Service de Neurologie Amiens, France
- CHRU de Lille, Hôpital Swyngedhauw Lille, France
- Hôpital Sébastopol, CHU de Reims Reims, France
NCT05199246
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Congenital Myopathy, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +19 more
- Locations
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- Institute of Myology Paris, France
NCT05200702
- Conditions
- Carbohydrate Metabolism, Inborn Errors, Congenital Myopathy, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +19 more
- Locations
-
- Institute of Myology Paris, France
NCT05099107
- Conditions
- Centronuclear Myopathy, Congenital Myopathy, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +17 more
- Locations
-
- Sahlgrenska university hospital Gothenburg, Västra Götaland County, Sweden
Completed
Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies
NCT03018184
- Conditions
- Congenital Myopathy, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, +10 more
- Locations
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- Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen, Denmark
NCT04478981
- Conditions
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Heredodegenerative Disorders, Nervous System, +12 more
- Locations
-
- Radboudumc Nijmegen, Gelderland, Netherlands
NCT04799366
- Conditions
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Heredodegenerative Disorders, Nervous System, +8 more
- Locations
-
- Rigshospitalet Copenhagen, Denmark
NCT04733976
- Conditions
- Aggression, Behavior, Behavioral Symptoms, +17 more
- Locations
-
- Children's Hospital of Eastern Ontario Ottawa, Ontario, Canada
- Holland Bloorview Kids Rehabilitation Hospital Toronto, Ontario, Canada
Completed
Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1
NCT02251457
- Conditions
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Heredodegenerative Disorders, Nervous System, +12 more
- Locations
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- The Ohio State University Wexner Medical Center Columbus, Ohio, United States