Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Recruiting
Observational Study
Familial Mediterranean Fever
MEFV Gene Mutation
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 4 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 160 (estimated)
- Sponsor
- Hospices Civils de Lyon · Other
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About This Trial
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 …
Trial Locations
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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 (w…
Contacts