Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission

NCT ID: NCT00323440

Last Updated: 2017-10-11

Basic Information

• Recruitment Status: WITHDRAWN
• Study Classification: OBSERVATIONAL
• Study Start Date: 2008-08-31
• Study Completion Date: 2016-08-31

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.

Conditions

Familial Mediterranean Fever

Keywords

Familial Mediterranean fever; Inflammation; Attacks; Remission; RNA; Cytokines; Inflammatory proteins; MEFV; mutations; Colchicine; Treatment; microarray RNA analysis

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Group 1

FMF patients in remission

No interventions assigned to this group

Group 2

FMF patients during attack

No interventions assigned to this group

Group 3

FMF patients without colchicine in remission

No interventions assigned to this group

Group 4

FMF patients without colchicine in attack

No interventions assigned to this group

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Sheba Medical Center

OTHER_GOV

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Avi Livneh, MD

Role: PRINCIPAL_INVESTIGATOR

Sheba Medical Center

Locations

Sheba Medical Center

Tel Litwinsky, , Israel

Countries

Israel

Other Identifiers

SHEBA-06-4126-AL-CTIL

Identifier Type: -

Identifier Source: org_study_id