Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation
试验速览
- 阶段
- 2 期
- 入组人数
- 80
- 试验地点
- 3
- 主要终点
- Acute clinical episode of FMF
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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).
排除标准
- •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
研究组 & 干预措施
Study group
Colchicine Cessation in FMF patients with one MEFV mutation
干预措施: Colchicine Cessation (Other)
Control group
The control group includes FMF patients that will be kept on a daily colchicine treatment
结局指标
主要结局
Acute clinical episode of FMF
时间窗: 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
次要结局
- High level of Serum Amyloid A (SAA) in serum(6 months)
研究者
yonatan butbul MD
Senior pediatrician & pediatric rheumatologist
Rambam Health Care Campus