Actively Recruiting
Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Led by Hospices Civils de Lyon · Updated on 2024-07-19
160
Participants Needed
8
Research Sites
414 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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).
CONDITIONS
Official Title
Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children 4 years of age or older or adults
- Clinical signs compatible with FMF and previous genetic analysis showing at least one pathogenic or possibly pathogenic MEFV gene mutation
- Newly diagnosed or currently in follow-up without time or disease progression limits
- Receiving specific or non-specific treatment for FMF or not receiving treatment
- Scheduled for a blood test as part of routine care
- Provided informed non-opposition or parental non-opposition if a minor
You will not qualify if you...
- Under legal protection, judicial protection, or other protective measures
- Unable to express consent
- In an emergency situation, whether life-threatening or not
- Known infections with HIV, hepatitis B virus (HBV), or hepatitis C virus (HCV)
AI-Screening
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Trial Site Locations
Total: 8 locations
1
Hôpital Femme-Mère-Enfant
Bron, France, 69677
Actively Recruiting
2
CH de Versailles - Hôpital André Mignot
Le Chesnay, France, 78157
Not Yet Recruiting
3
Hôpital Edouard Herriot
Lyon, France, 69008
Not Yet Recruiting
4
Hôpital de la Croix-Rousse
Lyon, France, 69317
Actively Recruiting
5
CHU de Montpellier
Montpellier, France, 34295
Not Yet Recruiting
6
Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau
Nîmes, France, 30029
Not Yet Recruiting
7
Hôpital Tenon
Paris, France, 75020
Actively Recruiting
8
Hôpital Lyon Sud
Pierre-Bénite, France, 69495
Not Yet Recruiting
Research Team
Y
Yvan Jamilloux, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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