Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age4+
SponsorHospices Civils de Lyon
About this trial
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
Qualifiers
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;
Disqualifiers
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;
Trial design
Treatments tested in this trial
- one additional blood sample during a planned blood test
Treatment groups
160 Participants
are divided into 2 treatment groupsSponsors and collaborators
Source ClinicalTrials.gov