A Diagnostic Test for Familial Mediterranean Fever

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.

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Key information

Conditions

Familial Mediterranean Fever Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Autoinflammatory Diseases

Age range

4 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Primary outcomes

Differences in interleukin-1bβ levels

Time frame: 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).

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

Assessment of a Functional Test to Detect Familial Mediterranean Fever

Acronym: DEPIST-FMF

Important dates

Study start: 2018
Primary completion: 2020
Study completion: 2020
First posted: Nov 20, 2018
Registry last updated: Jun 8, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed