ClinicalTrials.gov record NCT04478409

Characterization of a Functional Test for Mediterranean Family Fever Screening - 2

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Characterization of a Functional Test for Mediterranean Family Fever Screening - 2

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Jul 19, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age4 years old and older
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Observational study comparing people with Familial Mediterranean Fever who have MEFV mutations to healthy control donors. Participants give one extra small blood sample during a planned blood draw for laboratory testing. The study evaluates whether a simple functional blood test (interleukin-1β response and cell death) distinguishes patients and different MEFV genotypes.

What it is studying. The study tests a quick laboratory functional test that measures activation of the pyrine inflammasome (reported as interleukin-1β levels after stimulation with kinase inhibitors, and a measure of cell death) in blood cells. Investigators are assessing whether those lab results differ between people with FMF who carry MEFV mutations and healthy controls, and whether results vary by MEFV genotype.

What the researchers hope to learn. To characterize the performance of a functional blood test (interleukin-1β concentration and cell-death measure) for detecting inflammatory responses linked to MEFV mutations and to examine how test results correlate with different MEFV genotypes.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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).

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Biological
  • one additional blood sample during a planned blood test

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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;

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give one extra blood sample during a planned routine blood draw (4 ml for children under 12; 10 ml for children 12 and over and adults). Samples will be used in a laboratory functional test measuring interleukin-1β (including responses after exposure to kinase inhibitors) to compare FMF patients and healthy controls. The study does not change the usual course of care beyond this additional sample. Minors require parental non-opposition.

How the study is structured. A prospective observational case-control study. People with Familial Mediterranean Fever and documented MEFV mutations and healthy blood donors provide one extra blood sample during a planned blood test. Lab measurements are made at inclusion to compare groups.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on familial Mediterranean fever

Clinical trials62 trials listed for familial Mediterranean feverEvery trial the registry lists for familial Mediterranean fever, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in familial Mediterranean fever researchLatest monthly update: September 2026. Includes: Colchicine form change. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jul 21, 2021
Primary completion
July 2029 (estimated)
Study completion
July 2029 (estimated)
Target enrollment
160 participants (estimated)
Last updated on registry
Jul 19, 2024
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Hospices Civils de Lyon

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (8)

Terms used on this page · explanations by MedicalUpdates.ai

follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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