Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation

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Brief Title

Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation

Official Title

Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation

Brief Summary

      The purpose of this study is to evaluate the effect of discontinuation of colchicine
      treatment in a specific group of asymptomatic FMF patients with a single mutation in MEFV
      gene, both from a clinical and laboratory aspects.
    

Detailed Description

      The diagnosis of FMF is mainly clinical and genetic tests are only used to confirm the
      diagnosis . Even though the disease is autosomal recessive, not all FMF patients have two
      recognizable MEFV mutations. The phenotype of FMF patients varies according to the genotype,
      as shown by a number of studies showing that patients with one MEFV mutation have milder
      disease or even no symptoms. Some of the previously mentioned studies have shown that ceasing
      colchicine prophylaxis in these patients caused no recurrence. So far, no prospective
      controlled study has tested the effect of colchicine cessation in this group of FMF patients.
      The investigators presume that asymptomatic FMF patients with a single mutation can stop
      regular colchicine treatment while remaining under close follow-up.

      The purpose of the work:

      To examine the effect of colchicine cessation in a defined group of asymptomatic FMF patients
      with a single mutation in MEFV gene.

      Methods and study population:

      The work will be a controlled prospective comparative study including FMF patients aged 2-18
      years. Patients included will be those who were asymptomatic for six months prior to entering
      the study and were regularly treated with colchicine, and with a normal serum level of Serum
      Amyloid A (SAA). The study group will include patients with a single MEFV mutation that will
      stop colchicine therapy, and the control group will include FMF who will continue regular
      colchicine treatment. Follow-up in both groups will include clinical and laboratory (serum
      SAA levels) evaluation.

      The study end points and renewal of the colchicine:

      Any patient that develops acute symptoms of FMF will be immediately invited to the
      rheumatology clinic for medical examination. In addition, patients will be invited to the
      clinic after 3 and 6 months from the beginning of the study. At any clinic visit (scheduled
      or not) the patients will be assessed clinically and laboratory (serum SAA levels). The study
      will be stopped and colchicine will be renewed if at any of the above mentioned clinic visit
      the patient will be diagnosed as having a classic FMF attack or the SAA level will be above
      10 mg / l.

      The importance of the study:

      If the investigators conclude that colchicine prophylaxis can be safely discontinued in this
      group of FMF patients this will save them a treatment currently defined as a treatment for
      life.
    

Study Phase

Phase 2

Study Type

Interventional


Primary Outcome

Acute clinical episode of FMF

Secondary Outcome

 High level of Serum Amyloid A (SAA) in serum

Condition

Familial Mediterranean Fever

Intervention

Colchicine Cessation

Study Arms / Comparison Groups

 Study group
Description:  Colchicine Cessation in FMF patients with one MEFV mutation

Publications

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

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

80

Start Date

June 2014

Completion Date

January 2015

Primary Completion Date

January 2015

Eligibility Criteria

        Inclusion Criteria:

          -  Patients diagnosed with FMF based on clinical criteria

          -  FMF patients diagnosed of having at least one common MEFV mutation will be assigned to
             the study group. FMF patients who staid on colchicine treatment will be assigned to
             the control group, regardless of their genotype.

          -  Patients who were on a continuous colchicine prophylactic treatment for six months
             prior to entering the study.

          -  FMF patients who were free of acute FMF symptoms for six months prior to entering th
             study

          -  Patients were included in the study only if they had normal serum level of SAA (up to
             10 mg / l).

        Exclusion Criteria:

          -  Patients that in the six months prior to entering the study continued to have classic
             FMF episodes despite being on a continuous prophylactic colchicine

          -  Patients that had high level of SAA (above 10 mg/l) despite being on prophylactic
             colchicine treatment
      

Gender

All

Ages

2 Years - 18 Years

Accepts Healthy Volunteers

No

Contacts

Yonatan Butbul, MD, , 

Location Countries

Israel

Location Countries

Israel

Administrative Informations


NCT ID

NCT02175589

Organization ID

0080-14-RMB


Responsible Party

Principal Investigator

Study Sponsor

Rambam Health Care Campus

Collaborators

 Schneider Children's Hospital

Study Sponsor

Yonatan Butbul, MD, Study Chair, Rambam Health Care Campus


Verification Date

June 2014