Testing a new diagnostic tool for Familial Mediterranean Fever
Official title: Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Run by Hospices Civils de Lyon · NCT04478409 · Data updated 2026-11-12
This study is testing a new blood test to see if it can help doctors diagnose Familial Mediterranean Fever in people with certain gene mutations.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 4 Years and up |
| Sex | All |
| Enrollment | 160 (estimated) |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 8 sites (Bron and 7 other locations) |
| Status | Recruiting |
| Started | July 21, 2021 |
| Main results expected | July 2029 |
| Study ends | July 2029 |
| Registry record updated | July 19, 2024 |
| Trial ID | NCT04478409 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include children aged 4 and older or adults with a clinical diagnosis of FMF and at least one pathogenic MEFV gene mutation.
✕Probably not a fit
Patients who do not have a confirmed MEFV gene mutation or those with legal protections preventing consent may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to evaluate a functional test designed to diagnose Familial Mediterranean Fever (FMF) by measuring the activation of the inflammatory pyrine in patients with MEFV gene mutations. The study will involve collecting an additional blood sample from participants who are already undergoing routine blood tests. The researchers hypothesize that this quick and simple test can effectively differentiate FMF patients from healthy individuals based on their inflammatory response. The study will include both newly diagnosed patients and those in follow-up care.
Why it matters
Potential benefit: If successful, this diagnostic tool could lead to faster and more accurate identification of FMF, improving patient management and treatment outcomes.
How similar studies have gone: While similar diagnostic approaches have been explored, this specific functional test for FMF is novel and has not been extensively tested in prior studies.
Who can join: the full rules
Show full inclusion / exclusion 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;
Where it's running
-
Hôpital Femme-Mère-Enfant
Bron, France Recruiting -
Hôpital de la Croix-Rousse
Lyon, France Recruiting -
Hôpital Tenon
Paris, France Recruiting -
CH de Versailles - Hôpital André Mignot
Le Chesnay, France Not yet recruiting -
Hôpital Edouard Herriot
Lyon, France Not yet recruiting -
CHU de Montpellier
Montpellier, France Not yet recruiting
Show 2 more locations
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Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau
Nîmes, France Not yet recruiting -
Hôpital Lyon Sud
Pierre-Bénite, France Not yet recruiting
Study contacts
- Study coordinator: Yvan Jamilloux, MD
- Email: yvan.jamilloux@chu-lyon.fr
- Phone: 26 73 26 36
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Canakinumab use in FMF and Still's disease patients across real-world care
This real-world study looks at how people with FMF or Still's disease who were treated with canakinumab fare over at least 6 months.
-
Mediterranean diet with or without aerobic exercise for women with familial Mediterranean fever and fatty liver
This trial will test whether adding regular aerobic exercise to a Mediterranean diet helps women with familial Mediterranean fever who have non-alcoholic fatty liver disease.
-
Whole-body vibration plus vitamin D for adolescent girls with familial Mediterranean fever
This project will try adding regular whole-body vibration sessions to vitamin D and usual colchicine for girls aged 13–17 with familial Mediterranean fever to see if it improves fitness, muscle strength, and bone mass.
-
Inspiratory muscle training for adolescents with Familial Mediterranean Fever
This trial will try a daily inspiratory muscle training program to see if it improves breathing strength, exercise tolerance, and fatigue in teenagers (ages 13–17) with Familial Mediterranean Fever who are taking colchicine.
-
Investigating the Role of Foods in Familial Mediterranean Fever Attacks
This study is trying to see if certain foods, like gluten and wheat, can trigger or worsen attacks in people with Familial Mediterranean Fever.
-
Using RPH-104 to prevent fever attacks in patients with Familial Mediterranean Fever who can't tolerate colchicine
This study is testing if RPH-104 can help adults with Familial Mediterranean Fever who can’t take colchicine by preventing their fever attacks over a long period.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.