Actively Recruiting

Age: 4Years +
All Genders
Healthy Volunteers
NCT04478409

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

Age: 4Years +
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

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
Not Eligible

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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Complete this quick 3-step screening to check your eligibility

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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

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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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