Clinical trial Recruiting at 3 sites Observational Ages 4 and up

Testing a new diagnostic tool for Familial Mediterranean Fever

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

Run by Hospices Civils de Lyon · NCT04478409 · Data updated 2026-11-12

This study is testing a new blood test to see if it can help doctors diagnose Familial Mediterranean Fever in people with certain gene mutations.

Quick facts

Study typeObservational
Ages4 Years and up
SexAll
Enrollment160 (estimated)
SponsorHospices Civils de Lyon
Academic / other
Locations8 sites (Bron and 7 other locations)
StatusRecruiting
StartedJuly 21, 2021
Main results expectedJuly 2029
Study endsJuly 2029
Registry record updatedJuly 19, 2024
Trial IDNCT04478409 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include children aged 4 and older or adults with a clinical diagnosis of FMF and at least one pathogenic MEFV gene mutation.

Probably not a fit

Patients who do not have a confirmed MEFV gene mutation or those with legal protections preventing consent may not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to evaluate a functional test designed to diagnose Familial Mediterranean Fever (FMF) by measuring the activation of the inflammatory pyrine in patients with MEFV gene mutations. The study will involve collecting an additional blood sample from participants who are already undergoing routine blood tests. The researchers hypothesize that this quick and simple test can effectively differentiate FMF patients from healthy individuals based on their inflammatory response. The study will include both newly diagnosed patients and those in follow-up care.

Why it matters

Potential benefit: If successful, this diagnostic tool could lead to faster and more accurate identification of FMF, improving patient management and treatment outcomes.

How similar studies have gone: While similar diagnostic approaches have been explored, this specific functional test for FMF is novel and has not been extensively tested in prior studies.

Who can join: the full rules

Show full inclusion / exclusion 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 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;

Where it's running

  • Hôpital Femme-Mère-Enfant
    Bron, France
    Recruiting
  • Hôpital de la Croix-Rousse
    Lyon, France
    Recruiting
  • Hôpital Tenon
    Paris, France
    Recruiting
  • CH de Versailles - Hôpital André Mignot
    Le Chesnay, France
    Not yet recruiting
  • Hôpital Edouard Herriot
    Lyon, France
    Not yet recruiting
  • CHU de Montpellier
    Montpellier, France
    Not yet recruiting
Show 2 more locations
  • Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau
    Nîmes, France
    Not yet recruiting
  • Hôpital Lyon Sud
    Pierre-Bénite, France
    Not yet recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.