Characterization of a Functional Test for Mediterranean Family Fever Screening - 2

Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β).

In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls.

The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations.

The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).

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Key information

Conditions

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

Age range

4 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Children 4 years of age or older or adults
Having a clinical picture compatible with an FMF and a previous genetic analysis finding at least one mutation of the MEFV gene pathogenic or possibly pathogenic for the FMF group;
Newly diagnosed or in the process of follow-up (with no time limit or evolutionary criteria);
During specific or non-specific treatment of the disease or without treatment;
For whom a blood test is planned as part of routine care;
Whose informed non-opposition has been collected (or parental non-opposition in the case of a minor patient);

Exclusion criteria

Person under legal protection or under the protection of justice or any other protective measures;
Person out of state to express their consent;
Person in emergency situation, vital or not;
Known infections with HIV and / or HBV and / or HCV;

Treatment and study plan

one additional blood sample during a planned blood test

Biological

The study does not change the usual course of care. Only an additional blood sample (4 ml for children under 12 and 10 ml for children 12 and over and adults) during a planned blood test is specific to research (no risk added). The benefit / risk balance therefore remains unchanged with regard to the usual care of patients.

Primary outcomes

Quantification of interleukin-1β

Time frame: At inclusion

quantification of the capacity of the concentration of interleukin-1β measured in the supernatants of primary monocytes in response to kinase inhibitors, to discriminate between FMF subjects among themselves according to genotypes, and among control subjects (healthy subjects).

All samples will be analysed in the INSERM Unit 1111 - CIRI Centre International de Recherche en Infectiologie - Lyon - Team Inflammasome, bacterial infections and autoinflammation.

Study contacts

Contact information is provided by the study sponsor or research team.

Yvan Jamilloux, MD

CONTACT

[email protected]

26 73 26 36 ext. +33

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Acronym: DEPIST-FMF 2

Important dates

Study start: 2021
Primary completion: 2029
Study completion: 2029
First posted: Jul 20, 2020
Registry last updated: Jul 19, 2024

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

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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.

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