Familial Mediterranean Fever Clinical Trial
Official title:
Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission
Familial Mediterranean fever (FMF) is a genetic disease, caused by mutations in the FMF gene,
entitled MEFV. The disease is characterized by painful attacks of inflammation in sites lined
by serous membranes (e.g. abdominal pain caused by inflammation of the peritoneum, a serous
membrane surrounding all internal organs within the abdomen). Continuous colchicine treatment
prevents attacks in most patients. The pathogenesis of the disease, what leads to the attacks
and how colchicine helps, are questions not yet resolved. Elucidating the role of the
inflammatory proteins is an important step towards the understanding of these questions. To
date only small numbers of cytokines and inflammatory proteins have been studied
individually. We propose to study a large number of these proteins in the RNA and protein
levels addressing the interaction between them and the effect of colchicine on their
expression.
Blood samples will be drawn from consenting patients in remission, during attacks, under and
without colchicine treatment. (20 patients in each category).Twenty healthy volunteers will
donate control blood samples for the study. RNA will be produced from the neutrophils, and
cytokines and various proteins' RNA expression will be determined. Major expressed proteins
will be measured in the same samples and the results will be analyzed with regard to the
activity of the disease, MEFV mutations and colchicine treatment status. The information
obtained by the study may allow us to determine the sequence of events associated with FMF
attack development, and perhaps take us one step further in the understanding of the
pathogenesis of the disease.
Familial Mediterranean fever (FMF) is a genetic disease, caused by mutations in the FMF gene,
entitled MEFV. The disease is characterized by painful attacks of inflammation in sites lined
by serous membranes (e.g. abdominal pain caused by inflammation of the peritoneum, a serous
membrane surrounding all internal organs within the abdomen). Continuous colchicine treatment
prevents attacks in most patients. The pathogenesis of the disease, what leads to the attacks
and how colchicine helps, are questions not yet resolved. Elucidating the role of the
inflammatory proteins is an important step towards the understanding of these questions. To
date only small numbers of cytokines and inflammatory proteins have been studied
individually. We propose to study a large number of these proteins in the RNA and protein
levels addressing the interaction between them and the effect of colchicine on their
expression.
Blood samples will be drawn from consenting patients in remission, during attacks, under and
without colchicine treatment. (20 patients in each category).Twenty healthy volunteers will
donate control blood samples for the study. RNA will be produced from the neutrophils, and
cytokines and various proteins' RNA expression will be determined. Major expressed proteins
will be measured in the same samples and the results will be analyzed with regard to the
activity of the disease, MEFV mutations and colchicine treatment status. The information
obtained by the study may allow us to determine the sequence of events associated with FMF
attack development, and perhaps take us one step further in the understanding of the
pathogenesis of the disease.
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