A Diagnostic Test for Familial Mediterranean Fever

Familial Mediterranean Fever Clinical Trial

— DEPIST-FMF  

Official title:

Assessment of a Functional Test to Detect Familial Mediterranean Fever

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03747315
• Other study ID #: 69HCL17_0710
• Status: Completed
• Start date: December 15, 2018
• Est. completion date: December 15, 2020

Study information

• Verified date: June 2021
• Source: Hospices Civils de Lyon
• Contact: n/a
• 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 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 107
• Est. completion date: December 15, 2020
• Est. primary completion date: December 15, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 4 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Brucellosis
• Familial Mediterranean Fever
• Fever
• Hereditary Autoinflammatory Diseases

Intervention

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.
• 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.

Locations

Country	Name	City	State
France	Service de néphrologie et rhumatologie pédiatrique, Hôpital Femme Mère Enfant	Bron
France	Service de Médecine Interne, Pavillon O - Hopital Edouard Herriot	Lyon
France	Unité Inserm U1111 & Service de Médecine Interne, Hôpital de la Croix-Rousse	Lyon
France	Service de Médecine Interne et pathologies vasculaires, Batiment 1B, Centre Hospitalier 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	Differences in interleukin-1bß levels	Quantification of the capacity of interleukin-1ß 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