A Diagnostic Test for Familial Mediterranean Fever

NCT03747315 | Completed

• 1 other identifier: 69HCL17_0710
• Study Type: observational
• Target: 107
• Locations: 1 country
• Sites: 4

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.

Conditions

Familial Mediterranean Fever

Outcome Measures

Primary Outcomes (1)

• Differences in interleukin-1bβ levels

  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).

  Less than 48 hours

Study Arms (3)

Familial Mediterranean Fever (patients)

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

Other: In vitro functional test

Control group (patients)

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

Other: In vitro functional test

Healthy donors

Patients without symptoms (anonymous blood donors)

Other: In vitro functional test

Interventions

In vitro functional test OTHER

Measurement of interleukin-1beta secretion by monocytes and measurement of cell death upon Pyrin inflammasome activation by kinase inhibitor on an additional blood sample (4 ml for children under 12 and 10 ml for children 12 years and older and adults) during a sample for patient care.

Control group (patients); Familial Mediterranean Fever (patients)

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with Familial Mediterranean Fever, patients controls with similar symptoms and healthy subjects who donated their blood to the French Blood Establishment.

You may qualify if:

• 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);

You may not qualify if:

• 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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (4)

Service de néphrologie et rhumatologie pédiatrique, Hôpital Femme Mère Enfant

Bron, 69500, France

Location

Unité Inserm U1111 & Service de Médecine Interne, Hôpital de la Croix-Rousse

Lyon, 69004, France

Location

Service de Médecine Interne, Pavillon O - Hopital Edouard Herriot

Lyon, 69437, France

Location

Service de Médecine Interne et pathologies vasculaires, Batiment 1B, Centre Hospitalier Lyon Sud

Pierre-Bénite, 69495, France

Location

MeSH Terms

Conditions

Familial Mediterranean Fever

Condition Hierarchy (Ancestors)

Hereditary Autoinflammatory Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2018
• First Posted: November 20, 2018
• Study Start: December 15, 2018
• Primary Completion: December 15, 2020
• Study Completion: December 15, 2020
• Last Updated: June 8, 2021

Record last verified: 2021-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (4)