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

Last updated: July 18, 2024
Sponsor: Hospices Civils de Lyon
Overall Status: Active - Recruiting

Phase

N/A

Condition

Fever

Treatment

one additional blood sample during a planned blood test

Clinical Study ID

NCT04478409
69HCL20_0236
  • Ages > 4
  • All Genders
  • Accepts Healthy Volunteers

Study 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).

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Children 4 years of age or older or adults

  • Having a clinical picture compatible with an FMF and a previous genetic analysisfinding at least one mutation of the MEFV gene pathogenic or possibly pathogenic forthe FMF group;

  • Newly diagnosed or in the process of follow-up (with no time limit or evolutionarycriteria);

  • 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 thecase of a minor patient);

Exclusion

Exclusion Criteria:

  • Person under legal protection or under the protection of justice or any otherprotective 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;

Study Design

Total Participants: 160
Treatment Group(s): 1
Primary Treatment: one additional blood sample during a planned blood test
Phase:
Study Start date:
July 21, 2021
Estimated Completion Date:
July 31, 2029

Connect with a study center

  • Hôpital Femme-Mère-Enfant

    Bron, 69677
    France

    Active - Recruiting

  • CH de Versailles - Hôpital André Mignot

    Le Chesnay, 78157
    France

    Site Not Available

  • Hôpital Edouard Herriot

    Lyon, 69008
    France

    Site Not Available

  • Hôpital de la Croix-Rousse

    Lyon, 69317
    France

    Active - Recruiting

  • CHU de Montpellier

    Montpellier, 34295
    France

    Site Not Available

  • Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau

    Nîmes, 30029
    France

    Site Not Available

  • Hôpital Tenon

    Paris, 75020
    France

    Active - Recruiting

  • Hôpital Lyon Sud

    Pierre-Bénite, 69495
    France

    Site Not Available

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