[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100658314":3},{"organization":4,"outcomesModule":7,"designInfo":42,"detailedDescription":45,"studyPopulation":46,"armGroups":47,"interventions":41,"overallOfficials":51,"centralContacts":56,"locations":41,"responsibleParty":62,"collaborators":41,"id":66,"slug":67,"hasResults":68,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":41,"eligibilityCriteria":72,"healthyVolunteers":68,"sex":73,"minAge":74,"maxAge":75,"enrollmentInfo":76,"targetDuration":41,"studyType":79,"phases":41,"briefSummary":80,"conditions":81,"keywords":83,"overallStatus":88,"whyStopped":41,"lastUpdateSubmitDate":89,"lastUpdatePostDateStruct":90,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":41},{"fullName":5,"class":6},"Assiut University","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":16,"otherOutcomes":41},[9,13],{"measure":10,"description":11,"timeFrame":12},"Frequency of MEFV gene mutations","Proportion of children with MEFV gene mutations among the studied pediatric FMF patients.","Baseline",{"measure":14,"description":15,"timeFrame":12},"Mean ISSF disease severity score","Mean International Severity Scoring System for Familial Mediterranean Fever (ISSF) score. The score ranges from 0 to 14, with higher scores indicating more severe disease.",[17,20,23,26,29,32,35,38],{"measure":18,"description":19,"timeFrame":12},"Mean age at symptom onset","Mean age at symptom onset of FMF in years..",{"measure":21,"description":22,"timeFrame":12},"Mean age at diagnosis","Mean age at diagnosis of FMF in years.",{"measure":24,"description":25,"timeFrame":12},"Frequency of fever attacks","Proportion of children presenting with recurrent fever attacks.",{"measure":27,"description":28,"timeFrame":12},"Frequency of abdominal pain","Proportion of children presenting with abdominal pain during attacks.",{"measure":30,"description":31,"timeFrame":12},"Frequency of arthritis or arthralgia","Proportion of children presenting with arthritis or arthralgia during attacks.",{"measure":33,"description":34,"timeFrame":12},"Frequency of chest pain","Proportion of children presenting with chest pain during attacks",{"measure":36,"description":37,"timeFrame":12},"Mean colchicine dose","Mean daily colchicine dose in milligrams.",{"measure":39,"description":40,"timeFrame":12},"Proportion of patients with complete colchicine response","Proportion of patients showing complete response to colchicine therapy.",null,{"allocation":41,"interventionModel":41,"interventionModelDescription":41,"primaryPurpose":41,"observationalModel":43,"timePerspective":44,"maskingInfo":41},"CASE_ONLY","CROSS_SECTIONAL","Familial Mediterranean Fever is a common autoinflammatory disease in children of Mediterranean origin. This observational study will include pediatric patients with a clinical diagnosis of FMF according to Tel-Hashomer or Yalcinkaya-Ozen criteria who have available MEFV genetic testing.\n\nClinical features, disease severity (ISSF score), and genetic variants will be recorded and analyzed in a single assessment.","Pediatric patients with Familial Mediterranean Fever attending the Pediatric Allergy, Immunology and Rheumatology Unit at Assiut University Children Hospital.",[48],{"label":49,"type":41,"description":50,"interventionNames":41},"Single cohort: Pediatric FMF Patients","Children with confirmed clinical diagnosis of Familial Mediterranean Fever who have available MEFV genetic results and will undergo clinical and severity assessment.",[52],{"name":53,"affiliation":54,"role":55},"Maher M Ahmed, prof","Pediatrics Department, Assiut University Hospitals","STUDY_CHAIR",[57],{"name":58,"role":59,"phone":60,"phoneExt":41,"email":61},"Rana A Ahmed, Resident","CONTACT","01011062546","Rana.18313220@med.aun.edu.eg",{"type":63,"investigatorFullName":64,"investigatorTitle":65,"investigatorAffiliation":5,"oldNameTitle":41,"oldOrganization":41},"PRINCIPAL_INVESTIGATOR","Rana Ashraf Ahmed Hussein","Principal Investigator","100658314","genotype-and-phenotype-in-pediatric-familial-mediterranean-fever-100658314",false,"NCT07849998","Genotype and Phenotype in Pediatric Familial Mediterranean Fever","Genotype-Phenotype Association in Pediatric Familial Mediterranean Fever Experienced From Assiut University Children Hospital","Inclusion Criteria:\n\n* \\- Age less than 18 years\n* Clinical diagnosis of FMF according to Tel-Hashomer or Yalcinkaya-Ozen criteria\n* Availability of molecular genetic testing for MEFV gene mutations\n* Disease duration of at least 6 months\n* Written informed consent from legal caregivers\n\nExclusion Criteria:\n\n* \\- Other autoinflammatory diseases (CAPS, TRAPS, hyper-IgD syndrome)\n* Autoimmune diseases (systemic lupus erythematosus, juvenile idiopathic arthritis)\n* Incomplete genetic workup\n* Pre-existing chronic kidney disease or amyloidosis attributable to a cause other than FMF","ALL","1 Month","18 Years",{"count":77,"type":78},84,"ESTIMATED","OBSERVATIONAL","This cross-sectional study aims to assess the spectrum of MEFV gene mutations and their relation to clinical manifestations and disease severity in children with Familial Mediterranean Fever attending Assiut University Children Hospital.",[82],"Familial Mediterranean Fever",[82,84,85,86,87],"MEFV gene","Genotype","Phenotype","Assiut","NOT_YET_RECRUITING","2026-09-30",{"date":91,"type":92},"2026-10-05","ACTUAL",{"date":94,"type":78},"2026-09-26",{"date":96,"type":78},"2028-02-20",{"name":5,"class":6}]