NCT03747315

A Diagnostic Test for Familial Mediterranean Fever

Assessment of a Functional Test to Detect Familial Mediterranean Fever

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 107 (actual)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 4 Years
• Healthy volunteers: Accepted

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

Interventions

Type	Name	Description
OTHER	In vitro functional test	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.
OTHER	In vitro functional test	Measurement of interleukin-1beta secretion by monocytes and measurement of cell death upon Pyrin inflammasome activation by kinase inhibitor on samples from healthy subjects who donated their blood to the French Blood Establishment.

Timeline

• Start date: 2018-12-15
• Primary completion: 2020-12-15
• Completion: 2020-12-15
• First posted: 2018-11-20
• Last updated: 2021-06-08

Locations

4 sites across 1 country: France