A Diagnostic Test for Familial Mediterranean Fever (DEPIST-FMF)

Civil Hospices of Lyon

Status: Completed

Conditions: Familial Mediterranean Fever

Treatments: Other: In vitro functional test

Study type: Observational

Funder types: Other

Identifiers

NCT03747315

69HCL17_0710

Details and patient eligibility

About

Familial Mediterranean Fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is due to mutations of the MEFV gene, encoding variants of the Pyrin inflammasome. Inflammasomes are protein complexes of innate immunity producing pro-inflammatory cytokines (interleukin-1β).

In vitro, preliminary results demonstrated that activation of the Pyrin inflammasome (measured by interleukin-1β concentration) by kinase inhibitors is significantly increased in FMF patients compared to subjects with a similar clinical picture, and healthy controls. In addition, a measure of cell death yielded significant results in differentiating patients from controls.

The investigators hypothesize that this fast and simple functional test can serve as a diagnostic tool for FMF.

Enrollment: 107 patients

Sex: All

Ages: 4+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Clinical picture compatible with an Familial Mediterranean Fever and an earlier genetic analysis finding a mutation of the MEFV gene;
• Newly diagnosed or undergoing follow-up (without criteria of delay or evolutionary stage);
• In the course of specific or non-specific treatment of the disease or without treatment;
• For whom a blood test is planned as part of the routine care;
• Of whom the informed non-opposition has been collected (parental authorization in the case of a minor patient);

Exclusion criteria

• patient under legal protection or under safeguard of justice or any other measures of protection (guardianship, curatorship);
• Person unable to express his consent;
• Person in emergency situation, vital or not;
• Infection known to HIV and / or HBV and / or HCV

Trial design

107 participants in 3 patient groups

Familial Mediterranean Fever (patients)

Description:

Patients with previously confirmed Familial Mediterranean Fever (based on clinical criteria)

Treatment:

Other: In vitro functional test

Other: In vitro functional test

Control group (patients)

Description:

Patients with symptoms similar to that of Familial Mediterranean Fever (e.g. Behcet disease, Crohn, sepsis..) but without confirmed Familial Mediterranean Fever.

Treatment:

Other: In vitro functional test

Other: In vitro functional test

Healthy donors

Description:

Patients without symptoms (anonymous blood donors)

Treatment:

Other: In vitro functional test

Other: In vitro functional test