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

  • End date
    Jun 29, 2024
  • participants needed
  • sponsor
    Hospices Civils de Lyon
Updated on 29 November 2021
Accepts healthy volunteers


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-1).

In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1) 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).

Condition Familial Mediterranean Fever, MEFV Gene Mutation, disease, periodic
Treatment one additional blood sample during a planned blood test
Clinical Study IdentifierNCT04478409
SponsorHospices Civils de Lyon
Last Modified on29 November 2021


Yes No Not Sure

Inclusion Criteria

Children 4 years of age or older or adults
Having a clinical picture compatible with an FMF and a previous genetic analysis finding at least one mutation of the MEFV gene pathogenic or possibly pathogenic for the FMF group
Newly diagnosed or in the process of follow-up (with no time limit or evolutionary criteria)
During specific or non-specific treatment of the disease or without treatment
For whom a blood test is planned as part of routine care
Whose informed non-opposition has been collected (or parental non-opposition in the case of a minor patient)

Exclusion Criteria

Person under legal protection or under the protection of justice or any other protective measures
Person out of state to express their consent
Person in emergency situation, vital or not
Known infections with HIV and / or HBV and / or HCV
Clear my responses

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