Viewing Study NCT04478409



Ignite Creation Date: 2024-05-06 @ 2:57 PM
Last Modification Date: 2024-10-26 @ 1:40 PM
Study NCT ID: NCT04478409
Status: RECRUITING
Last Update Posted: 2021-11-22
First Post: 2020-07-16

Brief Title: Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Sponsor: Hospices Civils de Lyon
Organization: Hospices Civils de Lyon

Study Overview

Official Title: Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Status: RECRUITING
Status Verified Date: 2024-07
Last Known Status: RECRUITING
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: DEPIST-FMF 2
Brief Summary: Familial Mediterranean fever FMF is the most common auto-inflammatory disease prevalence 1-5 10000 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
Detailed Description: None

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None