Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission

Brief Title

Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission

Official Title

Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission

Brief Summary

      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.
    

Detailed Description

      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.
    

Study Type

Observational

Condition

Familial Mediterranean Fever

Study Arms / Comparison Groups

 Group 1

Description:  FMF patients in remission

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Estimated Enrollment

0

Start Date

August 2008

Completion Date

August 2016

Primary Completion Date

August 2010

Eligibility Criteria

        Inclusion Criteria:

          -  FMF patients, agreeing with diagnostic criteria, in attack or remission, under or
             without colchicine treatment.

          -  Age 18 or older

          -  Male or female

          -  all ethnic groups arriving for treatment or routine follow up appointment

          -  Written Consent to participate and donate blood for protein, RNA and DNA analyses.

        Exclusion Criteria:

          -  Younger than 18

          -  Patients that use anti inflammatory medications, other than colchicine

          -  Patients who in addition to FMF suffer from another acute infectious or inflammatory
             disease

          -  Patients who in addition to FMF suffer from another chronic infectious or inflammatory
             or autoimmune disease.

          -  Amyloidosis

          -  Pregnancy
      

Gender

All

Ages

18 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Avi Livneh, MD, , 

Location Countries

Israel

Location Countries

Israel

NCT ID

NCT00323440

Organization ID

SHEBA-06-4126-AL-CTIL

Responsible Party

Sponsor

Study Sponsor

Sheba Medical Center

Study Sponsor

Avi Livneh, MD, Principal Investigator, Sheba Medical Center

Verification Date

October 2017