Study to Evaluate a Simple Blood Test for Detecting Familial Mediterranean Fever and MEFV Gene Mutations

What this Trial Is About

Familial Mediterranean fever FMF is a common auto-inflammatory disease caused by mutations in the MEFV gene, which affects the Pyrine inflammasome involved in immune response. Researchers are evaluating a quick and simple functional test that measures interleukin-1b2 activation to help diagnose FMF and distinguish different genetic mutations in patients. This study aims to better characterize this tests ability to screen for FMF mutations. The study involves collecting an additional blood sample during a routine blood test, with 4 ml taken for children under 12 and 10 ml for those 12 and over, including adults. Participants include children and adults with FMF and healthy blood donors. The research does not alter usual care and focuses on correlating genotype and phenotype through this functional test. Participants will have their interleukin-1b2 levels measured at inclusion using this blood sample. The study requires no changes to regular treatment and poses no additional risk beyond the extra blood draw. The study is observational, with healthy volunteers included for comparison, and will continue until July 2029 as researchers analyze the tests diagnostic capabilities and genotype correlations.

Characterization of a Functional Test for Mediterranean Family Fever Screening - 2