A Diagnostic Test for Familial Mediterranean Fever

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Brief Title

A Diagnostic Test for Familial Mediterranean Fever

Official Title

Assessment of a Functional Test to Detect Familial Mediterranean Fever

Brief Summary

      Familial Mediterranean Fever (FMF) is the most common auto-inflammatory disease (prevalence:
      1-5 / 10,000 inhabitants). It is due to mutations of the MEFV gene, encoding variants of the
      Pyrin inflammasome. Inflammasomes are protein complexes of innate immunity producing
      pro-inflammatory cytokines (interleukin-1β).

      In vitro, preliminary results demonstrated that activation of the Pyrin inflammasome
      (measured by interleukin-1β concentration) by kinase inhibitors is significantly increased in
      FMF patients compared to subjects with a similar clinical picture, and healthy controls. In
      addition, a measure of cell death yielded significant results in differentiating patients
      from controls.

      The investigators hypothesize that this fast and simple functional test can serve as a
      diagnostic tool for FMF.

Study Type


Primary Outcome

Differences in interleukin-1bβ levels


Familial Mediterranean Fever


In vitro functional test

Study Arms / Comparison Groups

 Familial Mediterranean Fever (patients)
Description:  Patients with previously confirmed Familial Mediterranean Fever (based on clinical criteria)


* 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

December 15, 2018

Completion Date

December 15, 2020

Primary Completion Date

December 15, 2020

Eligibility Criteria

        Inclusion Criteria:

          -  Clinical picture compatible with an Familial Mediterranean Fever and an earlier
             genetic analysis finding a mutation of the MEFV gene;

          -  Newly diagnosed or undergoing follow-up (without criteria of delay or evolutionary

          -  In the course of specific or non-specific treatment of the disease or without

          -  For whom a blood test is planned as part of the routine care;

          -  Of whom the informed non-opposition has been collected (parental authorization in the
             case of a minor patient);

        Exclusion Criteria:

          -  patient under legal protection or under safeguard of justice or any other measures of
             protection (guardianship, curatorship);

          -  Person unable to express his consent;

          -  Person in emergency situation, vital or not;

          -  Infection known to HIV and / or HBV and / or HCV




4 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers


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Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Hospices Civils de Lyon

Study Sponsor

, , 

Verification Date

June 2021