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

Familial Mediterranean Fever Clinical Trial

— DEPIST-FMF 2  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04478409
• Other study ID #: 69HCL20_0236
• Status: Recruiting
• Start date: July 21, 2021
• Est. completion date: June 2024

Study information

• Verified date: November 2021
• Source: Hospices Civils de Lyon
• Contact: Yvan Jamilloux, MD
• Phone: 26 73 26 36
• Email: yvan.jamilloux[@]chu-lyon.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 160
• Est. completion date: June 2024
• Est. primary completion date: December 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 4 Years and older

Eligibility

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;

Related Conditions & MeSH terms

• Brucellosis
• Familial Mediterranean Fever
• Fever
• Hereditary Autoinflammatory Diseases
• MEFV Gene Mutation

Intervention

Biological:
• one additional blood sample during a planned blood test
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.

Locations

Country	Name	City	State
France	Hôpital Femme-Mère-Enfant	Bron
France	CH de Versailles - Hôpital André Mignot	Le Chesnay
France	Hôpital de la Croix-Rousse	Lyon
France	Hôpital Edouard Herriot	Lyon
France	CHU de Montpellier	Montpellier
France	Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau	Nîmes
France	Hôpital Tenon	Paris
France	Hôpital Lyon Sud	Pierre-Bénite

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Quantification of interleukin-1ß	quantification of the capacity of the concentration of interleukin-1ß 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.	At inclusion