[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100603626":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":10,"centralContacts":20,"locations":26,"responsibleParty":52,"collaborators":10,"id":56,"slug":57,"hasResults":58,"nctId":59,"briefTitle":60,"officialTitle":60,"acronym":10,"eligibilityCriteria":61,"healthyVolunteers":62,"sex":63,"minAge":64,"maxAge":65,"enrollmentInfo":66,"targetDuration":10,"studyType":69,"phases":10,"briefSummary":70,"conditions":71,"keywords":10,"overallStatus":28,"whyStopped":10,"lastUpdateSubmitDate":79,"lastUpdatePostDateStruct":80,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":88},{"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,"countryCode":32,"cosmosGeoPoint":33,"geoPoint":38,"contacts":39},"RECRUITING","Cairo","11591","Egypt","EG",{"type":34,"coordinates":35},"Point",[36,37],31.24967,30.06263,{"lat":37,"lon":36},[40,41,44,46,48,50],{"name":22,"role":23,"phone":24,"phoneExt":10,"email":25},{"name":42,"role":43,"phone":10,"phoneExt":10,"email":10},"Nagia A Fahmy, MD","SUB_INVESTIGATOR",{"name":45,"role":43,"phone":10,"phoneExt":10,"email":10},"Alice K Abdel Aleem, MD",{"name":47,"role":43,"phone":10,"phoneExt":10,"email":10},"Nermine S Elsayed, MD",{"name":49,"role":43,"phone":10,"phoneExt":10,"email":10},"Maha Z Ramadan, MD",{"name":51,"role":43,"phone":10,"phoneExt":10,"email":10},"Radwa M Soliman, MD",{"type":53,"investigatorFullName":54,"investigatorTitle":55,"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","phenotype---genotype-correlation-in-a-sample-of-egyptian-patients-with-congenital-myopathies-and-congenital-muscular-dystrophies-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":67,"type":68},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.",[72,73,74,75,76,77,78],"Phenotype","Genotype","Correction","Sample","Egyptian Patients","Congenital Myopathies","Congenital Muscular Dystrophies","2025-08-17",{"date":81,"type":82},"2025-08-24","ACTUAL",{"date":84,"type":82},"2024-06-30",{"date":86,"type":68},"2026-06-30",{"name":5,"class":6},1]