[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100603626":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":10,"centralContacts":20,"locations":26,"responsibleParty":51,"collaborators":10,"id":55,"slug":10,"hasResults":56,"nctId":57,"briefTitle":58,"officialTitle":58,"acronym":10,"eligibilityCriteria":59,"healthyVolunteers":60,"sex":61,"minAge":62,"maxAge":63,"enrollmentInfo":64,"targetDuration":10,"studyType":67,"phases":10,"briefSummary":68,"conditions":69,"keywords":10,"overallStatus":28,"whyStopped":10,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":86},{"fullName":5,"class":6},"Ain Shams University","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Study Population",null,"Patients with congenital myopathies or congenital muscular dystrophies evaluated for phenotype-genotype correlation.",[13],"Diagnostic Test: Genetic Testing and Muscle Biopsy",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":10},"DIAGNOSTIC_TEST","Genetic Testing and Muscle Biopsy","Comprehensive diagnostic assessment including clinical examination, electromyography (EMG), muscle biopsy for histopathological evaluation, and genetic testing to determine phenotype-genotype correlation in congenital myopathies and muscular dystrophies.",[9],[21],{"name":22,"role":23,"phone":24,"phoneExt":10,"email":25},"Nouran M Sabry, MSc","CONTACT","00201092289982","nouran.abdelaziz@med.asu.edu.eg",[27],{"facility":5,"status":28,"city":29,"state":10,"zip":30,"country":31,"cosmosGeoPoint":32,"geoPoint":37,"contacts":38},"RECRUITING","Cairo","11591","Egypt",{"type":33,"coordinates":34},"Point",[35,36],31.24967,30.06263,{"lat":36,"lon":35},[39,40,43,45,47,49],{"name":22,"role":23,"phone":24,"phoneExt":10,"email":25},{"name":41,"role":42,"phone":10,"phoneExt":10,"email":10},"Nagia A Fahmy, MD","SUB_INVESTIGATOR",{"name":44,"role":42,"phone":10,"phoneExt":10,"email":10},"Alice K Abdel Aleem, MD",{"name":46,"role":42,"phone":10,"phoneExt":10,"email":10},"Nermine S Elsayed, MD",{"name":48,"role":42,"phone":10,"phoneExt":10,"email":10},"Maha Z Ramadan, MD",{"name":50,"role":42,"phone":10,"phoneExt":10,"email":10},"Radwa M Soliman, MD",{"type":52,"investigatorFullName":53,"investigatorTitle":54,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"PRINCIPAL_INVESTIGATOR","Nouran Mohamed Sabry Abdel Aziz","Assistant Lecturer of Neurology and Psychiatry Department, Faculty of Medicine, Ain Shams University, Egypt.","100603626",false,"NCT07138963","Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies","Inclusion Criteria:\n\n* Patients with clinical criteria of Congenital Myopathies (CMs) and Congenital Muscular dystrophies (CMDs) with different modes of inheritance.\n* Age: patients below age of 18 years.\n* Gender: Both males and females are included\n* Genetically confirmed CMs and CMDs.\n\nExclusion Criteria:\n\n* Patients above 18 years.\n* Spinal muscular atrophy (SMA),and root lesions.\n* Congenital myasthenic syndromes\n* Dystrophinopathies,Duchenne Muscular Dystrophy (DMD), Limb-Girdle Muscular Dystrophy (LGMD)\n* .Metabolic myopathies\n* .Inflammatory muscle diseases",true,"ALL","1 Year","18 Years",{"count":65,"type":66},25,"ESTIMATED","OBSERVATIONAL","The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.",[70,71,72,73,74,75,76],"Phenotype","Genotype","Correction","Sample","Egyptian Patients","Congenital Myopathies","Congenital Muscular Dystrophies","2025-08-17",{"date":79,"type":80},"2025-08-24","ACTUAL",{"date":82,"type":80},"2024-06-30",{"date":84,"type":66},"2026-06-30",{"name":5,"class":6},1]