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

Familial Mediterranean Fever Clinical Trial

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

Clinical Trial Summary

Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β). In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls. The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations. The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT04478409
Study type Observational
Source Hospices Civils de Lyon
Contact Yvan Jamilloux, MD
Phone 26 73 26 36
Email yvan.jamilloux@chu-lyon.fr
Status Recruiting
Phase
Start date July 21, 2021
Completion date June 2024
View Details
See also
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