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

Study Status: Withdrawn
Recruit Status: Unknown status
Study Type: Interventional

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 Summary:

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
Sponsor: Rambam Health Care Campus

Current Primary Outcome: Acute clinical episode of FMF [ Time Frame: 6 months ]

Acute clinical episode of FMF diagnosed by one of the investigators at any clinic visit assigned at 3 or 6 months after the cessation of colchicine treatment or at an unassigned visit if the patient attained the clinic due to an acute symptoms of FMF


Original Primary Outcome: Same as current

Current Secondary Outcome: High level of Serum Amyloid A (SAA) in serum [ Time Frame: 6 months ]

High level of SAA (above 10 mg/l) at any clinic visit assigned at 3 or 6 months after the cessation of colchicine treatment or at an unassigned visit if the patient attained the clinic due to an acute symptoms of FMF


Original Secondary Outcome: Same as current

Information By: Rambam Health Care Campus

Dates:
Date Received: June 24, 2014
Date Started: June 2014
Date Completion: January 2015
Last Updated: June 25, 2014
Last Verified: June 2014