A Diagnostic Test for Familial Mediterranean Fever

Completed

• Conditions: Familial Mediterranean Fever
• Interventions: Other: In vitro functional test

• Registration Number: NCT03747315
• Lead Sponsor: Hospices Civils de Lyon

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2018-11-14
• Study First Submitted QC: 2018-11-19
• Study First Posted: 2018-11-20
• Study Start: 2018-12-15
• Primary Completion: 2020-12-15
• Study Completion: 2020-12-15
• Status Verified: 2021-06
• Last Update Submitted: 2021-06-07
• Last Update Posted: 2021-06-08

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 107

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);

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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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Familial Mediterranean Fever (patients)	In vitro functional test	Patients with previously confirmed Familial Mediterranean Fever (based on clinical criteria)
Healthy donors	In vitro functional test	Patients without symptoms (anonymous blood donors)
Control group (patients)	In vitro functional test	Patients with symptoms similar to that of Familial Mediterranean Fever (e.g. Behcet disease, Crohn, sepsis..) but without confirmed Familial Mediterranean Fever.

Primary Outcome Measures

Name	Time	Method
Differences in interleukin-1bβ levels	Less than 48 hours	Quantification of the capacity of interleukin-1β concentration measured in primary monocyte supernatants in response to kinase inhibitors, to discriminate Familial Mediterranean Fever subjects from control subjects (healthy subjects and subjects with symptoms similar to those of Familial Mediterranean Fever).; Analysis have to be performed Less than 48 hours after blood sampling (only one sampling).

Trial Locations

Locations (4)

Service de néphrologie et rhumatologie pédiatrique, Hôpital Femme Mère Enfant; 🇫🇷 Bron, France

Unité Inserm U1111 & Service de Médecine Interne, Hôpital de la Croix-Rousse; 🇫🇷 Lyon, France

Service de Médecine Interne, Pavillon O - Hopital Edouard Herriot; 🇫🇷 Lyon, France

Service de Médecine Interne et pathologies vasculaires, Batiment 1B, Centre Hospitalier Lyon Sud; 🇫🇷 Pierre-Bénite, France