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

Recruiting now

Conditions studied: Familial Mediterranean Fever, MEFV Gene Mutation

In brief

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).

Key facts

Study ID

NCT04478409

Run by

Hospices Civils de Lyon

People needed

160

Starts

2021-07-21

Expected to finish

2029-07-01

Last updated by the study team

2024-07-19

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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);

You may not qualify if…

• 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 is running

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

Full record on ClinicalTrials.gov

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