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

Launched by HOSPICES CIVILS DE LYON · Jul 16, 2020

Keywords

ClinConnect Summary

This clinical trial is looking at a new, quick test that could help diagnose Familial Mediterranean Fever (FMF), a condition caused by changes in a specific gene called MEFV. FMF is an auto-inflammatory disease that leads to episodes of fever and pain, and understanding whether a patient has the condition can be complicated. The researchers believe that this simple test will be able to tell the difference between patients with FMF and those who do not have it by measuring certain markers in their blood.

To participate in the trial, individuals must be at least 4 years old and have been diagnosed with FMF, confirmed by a genetic test showing at least one mutation in the MEFV gene. Participants can be newly diagnosed or already undergoing treatment. They will need to have a blood test as part of their usual care. It’s important to know that some people, such as those unable to give consent or those with certain infections, cannot participate. If you join the study, you'll help researchers learn more about how to identify and manage this condition better.

Gender

ALL

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;