NCT04478409 Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
| NCT ID | NCT04478409 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Hospices Civils de Lyon |
| Condition | Familial Mediterranean Fever |
| Study Type | OBSERVATIONAL |
| Enrollment | 160 participants |
| Start Date | 2021-07-21 |
| Primary Completion | 2029-07 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 160 participants in total. It began in 2021-07-21 with a primary completion date of 2029-07.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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).
Eligibility Criteria
Inclusion Criteria: * Children 4 years of age or older or adults * Having a clinical picture compatible with an FMF and a previous genetic analysis finding at least one mutation of the MEFV gene pathogenic or possibly pathogenic for the FMF group; * Newly diagnosed or in the process of follow-up (with no time limit or evolutionary criteria); * During specific or non-specific treatment of the disease or without treatment; * For whom a blood test is planned as part of routine care; * Whose informed non-opposition has been collected (or parental non-opposition in the case of a minor patient); Exclusion Criteria: * Person under legal protection or under the protection of justice or any other protective measures; * Person out of state to express their consent; * Person in emergency situation, vital or not; * Known infections with HIV and / or HBV and / or HCV;
Contact & Investigator
Frequently Asked Questions
Who can join the NCT04478409 clinical trial?
This trial is open to participants of all sexes, aged 4 Years or older, studying Familial Mediterranean Fever. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04478409 currently recruiting?
Yes, NCT04478409 is actively recruiting participants. Contact the research team at yvan.jamilloux@chu-lyon.fr for enrollment information.
Where is the NCT04478409 trial being conducted?
This trial is being conducted at Bron, France, Le Chesnay, France, Lyon, France, Lyon, France and 4 additional locations.
Who is sponsoring the NCT04478409 clinical trial?
NCT04478409 is sponsored by Hospices Civils de Lyon. The trial plans to enroll 160 participants.