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November 24, 2016

VIB and Ghent researchers design familial mediterranean fever diagnosis tool

Researchers from VIB and Ghent University have designed a new tool for the diagnosis of Familial Mediterranean Fever (FMF).

Researchers from VIB and Ghent University have designed a new tool for the diagnosis of Familial Mediterranean Fever (FMF).

FMF is a genetic disease commonly occurring among Mediterranean populations triggering symptoms like inflammation, fever, severe pain and if left untreated can lead to kidney failure.

The immunological assay allows selective identification of FMF patients among patients suffering from other autoinflammatory diseases and healthy individuals, based on the differential inflammasome activation response of their blood monocytes.

It detects changes in the body’s immune reaction to pyrin, an inflammasome adaptor mutated in FMF.

The single, affordable and convenient assay is expected to facilitate a timely and correct identification of FMF patients for colchicine therapy, and will enable more cost-effective selection of patients for genetic confirmation of MEFV mutations.

VIB-Ghent University professor Mohamed Lamkanfi said: “As next steps, we are setting up clinical trials in Belgium for which we are actively seeking volunteers both FMF patients and people suffering from related inflammatory disorders.

“These trials are funded by, among other parties, the European Research Council and FWO (Research Foundation – Flanders).

"The single, affordable and convenient assay is expected to facilitate a timely and correct identification of FMF patients for colchicine therapy."

“In addition, labs from the Netherlands and Italy have already expressed interest.

"We are also exploring possible collaborations with industrial partners in order to make our method available as a diagnostic kit.”

Trials conducted on 13 people in collaboration with physicians from Belgium and Italy validated the functionality of the tool.


Image: Mohamed Lamkanfi and the research team. Photo: ©VIB-UGent

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