Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: one additional blood sample during a planned blood test.
- Who it may be relevant to
- Registry conditions: Familial Mediterranean Fever, MEFV Gene Mutation. Basic parameters: from 4 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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).
Interventions
- Biological one additional blood sample during a planned blood test
The study does not change the usual course of care. Only an additional blood sample (4 ml for children under 12 and 10 ml for children 12 and over and adults) during a planned blood test is specific to research (no risk added). The benefit / risk balance therefore remains unchanged with regard to the usual care of patients.
Primary outcome measures
- Quantification of interleukin-1β [Time frame: At inclusion]
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;
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
France · 8 centers
- Hôpital Femme-Mère-Enfant — Bron
- CH de Versailles - Hôpital André Mignot — Le Chesnay
- Hôpital Edouard Herriot — Lyon
- Hôpital de la Croix-Rousse — Lyon
- CHU de Montpellier — Montpellier
- Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau — Nîmes
- Hôpital Tenon — Paris
- Hôpital Lyon Sud — Pierre-Bénite
Identifiers
NCT: NCT04478409 · 69HCL20_0236