NCT05488561

Clinical and Molecular Evaluation of Childern With Familial Meditterranean Fever and Their Siblings

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 50 (estimated)
• Sponsor: Sohag University · Academic / Other
• Sex: All
• Age: 1 Day – 18 Years
• Healthy volunteers: Not accepted

Summary

Familial Mediterranean fever (FMF ,recurrent polyserositis ,periodic disease) is an autosomal recessive auto inflammatory disease which primarily affect population surrounding the Mediterranean basin (Arabs , Turks ,Armenians, Jews ).Despite its striking symptoms pattern FMF was first described as distinct entity only in 1945. It is characterized by recurrent attacks of fever , peritonitis ,pleurisy , arthritis , or erysipelas like skin disease. The most dangerous complication of this disease is secondary amyloidosis . FMF diagnosis is mainly clinical, and the genetic testing is indicated to support it . Uncommonly, amyloidosis may develop in individuals carrying two Familial Mediterranean fever gene (MEFV ) mutations without overt clinical symptoms of FMF, a condition designated as phenotype II. Furthermore, two MEFV mutations may be harbored without signs or symptoms of FMF nor of reactive amyloidosis. This 'silent' homozygous or compound heterozygote state is termed phenotype III.

Conditions

• Familial Mediterranean Fever

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	CBC with differential ,ESR ,CRP, Amyloid level , FMF gene	leucocytosis , high ESR and CRP ,amyloid level indicates inflammation positive FMF gene indicates having the disease .

Timeline

• Start date: 2022-08-15
• Primary completion: 2023-08-01
• Completion: 2023-08-01
• First posted: 2022-08-04
• Last updated: 2022-08-04

Locations

1 site across 1 country: Egypt