Testing a new diagnostic tool for Familial Mediterranean Fever

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

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 type: Observational
• Enrollment: 160 (estimated)
• Ages: 4 Years and up
• Sex: All
• Sponsor: Hospices Civils de Lyon (Academic / other)
• Locations: 8 sites (Bron and 7 other locations)
• Trial ID: NCT04478409 on ClinicalTrials.gov

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.

Who should consider this trial

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.

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.

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

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 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 this trial is running

Bron and 7 other locations

• Hôpital Femme-Mère-Enfant — Bron, France (Recruiting)
• CH de Versailles - Hôpital André Mignot — Le Chesnay, France (Not_yet_recruiting)
• Hôpital Edouard Herriot — Lyon, France (Not_yet_recruiting)
• Hôpital de la Croix-Rousse — Lyon, France (Recruiting)
• CHU de Montpellier — Montpellier, France (Not_yet_recruiting)
• Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau — Nîmes, France (Not_yet_recruiting)
• Hôpital Tenon — Paris, France (Recruiting)
• Hôpital Lyon Sud — Pierre-Bénite, France (Not_yet_recruiting)

Study contacts

• Study coordinator: Yvan Jamilloux, MD

Conditions Familial Mediterranean Fever; MEFV Gene Mutation; Familial Mediterranean fever; Interleukin-1β; MEFV gene mutation; innate immunity