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

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Brief Title

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

Official Title

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

Brief 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).

Study Type


Primary Outcome

Quantification of interleukin-1β


Familial Mediterranean Fever


one additional blood sample during a planned blood test

Study Arms / Comparison Groups

 Children or adult with Familial Mediterranean fever
Description:  Considering 5 clearly pathogenic (homozygous) genotypes, 15 possibly pathogenic genotypes (5 pathogenic mutations in the heterozygous state, 10 possibly pathogenic mutations in the homozygous or heterozygous state), a number of 80 patients will be necessary to cover the correlation analysis genotype / phenotype.
The study does not change the usual course of care. Only an additional blood sample (4 ml for children under 12 and 10 ml for children 12 and over and adults) during a planned blood test is specific to research (no risk added). The benefit / risk balance therefore remains unchanged with regard to the usual care of patients.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

July 21, 2021

Completion Date

June 2024

Primary Completion Date

December 2023

Eligibility Criteria

        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

          -  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;




4 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers


, 26 73 26 36, [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Hospices Civils de Lyon

Study Sponsor

, , 

Verification Date

November 2021