Diagnosis and Treatment of Russian Patients With MutYH-associated Polyposis
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 25
- 试验地点
- 2
- 主要终点
- Patients with germIine mutations in MutYH
研究概览
简要总结
This is single-center, prospective, non-randomized study
详细描述
The study will include patients with more than 3 polyps, without mutations in the APC gene. Using molecular genetic research methods (polymerase chain reaction, SSCP, sequencing by Sanger method) mutations in the MutYH gene will be studied. For all patients with mutations in the MutYH gene, an optimal diagnostic algorithm will be developed. The significance of monoallelic mutations in the MutYH gene will be determined. Clinical monitoring will be defined. Optimal amount of surgical intervention will be suggested.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 71 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •patients with multiple colon polyps (n polyps = 4+)
- •patient consent to participate in the study
排除标准
- •presence of mutations in the APC gene
- •patient's refusal to participate in the study
研究组 & 干预措施
Patients with mutations in the MutYH-gene
Patients with established diagnosis of MutYH-associated polyposis with monoallelic and biallelic mutations in the MutYH-gene
干预措施: Sanger sequencing method (Genetic)
Patients with multiple colon polyps
Number of polyps from 4+
干预措施: Sanger sequencing method (Genetic)
Control sample
Patients who did not have colon polyps
干预措施: Sanger sequencing method (Genetic)
结局指标
主要结局
Patients with germIine mutations in MutYH
时间窗: from 0 to 6 months
number of patients with monoallelic and biallelic mutations in the MutYH-gene
次要结局
未报告次要终点