Actively Recruiting

Age: 4Years +
All Genders
Healthy Volunteers
ID04478409

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

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Familial Mediterranean fever (FMF) is a common auto-inflammatory disease caused by mutations in the MEFV gene, which affects the Pyrine inflammasome involved in immune response. Researchers are evaluating a quick and simple functional test that measures interleukin-1b2 activation to help diagnose FMF and distinguish different genetic mutations in patients. This study aims to better characterize this test's ability to screen for FMF mutations. The study involves collecting an additional blood sample during a routine blood test, with 4 ml taken for children under 12 and 10 ml for those 12 and over, including adults. Participants include children and adults with FMF and healthy blood donors. The research does not alter usual care and focuses on correlating genotype and phenotype through this functional test. Participants will have their interleukin-1b2 levels measured at inclusion using this blood sample. The study requires no changes to regular treatment and poses no additional risk beyond the extra blood draw. The study is observational, with healthy volunteers included for comparison, and will continue until July 2029 as researchers analyze the test's diagnostic capabilities and genotype correlations.

CONDITIONS

Brief 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 Familial Mediterranean Fever
  • Previous genetic analysis showing at least one pathogenic or possibly pathogenic MEFV gene mutation
  • Newly diagnosed or in follow-up care with no time limit
  • Receiving specific, non-specific treatment, or no treatment
  • Planned blood test as part of routine care
  • Provided informed non-opposition (or parental non-opposition for minors)
Not Eligible

You will not qualify if you...

  • Under legal protection or guardianship
  • Unable to give consent
  • In an emergency situation
  • Known infections with HIV, HBV, or HCV

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Monitoring

Duration - Duration of routine care as planned by participants' healthcare providers

Participants who undergo routine care are observed. An additional blood sample is collected during a planned blood test to support research without changing usual care.

1 additional blood sample collected during a planned blood test

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

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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