Molecular Typing and Precise Prevention and Treatment of Peutz-Jeghers Syndrome
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- Mutation of gene associated with Peutz-Jeghers syndrome
研究概览
简要总结
The mutation of STK11 has been regcognized to be the major cause of Peutz-Jeghers syndrome (PJS).The aim of this study was to confirm the mutation rate of gene associated with gastrointestinal malignancies,including STK11, APC,PMS1,et al. Furtherly, the investigators analyze the association of STK11 with gut microbiota.
详细描述
All patients diagnosed as PJS were enrolled and accepted second generation gene sequencing with their blood specimens. Then all patients allocated into gene mutation group and no gene mutation group according to if the cases accompany with gene mutation of STK11.Also, health persons were enrolled and a case controlled study will be carried out.All patients and health persons accepted 16s rRNA sequencing with their feces specimens.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Supportive Care
- 盲法
- None
入排标准
- 年龄范围
- 5 Years 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Subject with ages from 18-70 years old.
- •Subject diagnosed with Peutz-Jeughers syndrome.
- •Subject without hypertension, diabetes and other gastrointestinal diseases.
- •The consent form has been signed.
排除标准
- •Subject is younger than 18 years or older than 70 years.
- •Subject with hypertension,diabetes and other gastrointestinal diseases.
- •Subject taken or adminstered medicine associated with digestive function during latest 1 month.
- •Pregnant women.
研究组 & 干预措施
Peutz-Jeghers patients
All Peutz-Jeghers patients meet the clinical criteria
干预措施: Second generation sequencing (Behavioral)
Peutz-Jeghers patients
All Peutz-Jeghers patients meet the clinical criteria
干预措施: 16s rRNA gene sequencing (Behavioral)
Health persons
Those without Peutz-Jeghers syndrome
干预措施: 16s rRNA gene sequencing (Behavioral)
结局指标
主要结局
Mutation of gene associated with Peutz-Jeghers syndrome
时间窗: 2 years
Mutation of gene associated with Peutz-Jeghers syndrome, including STK11, APC,PMS1,PMS2 et al.
次要结局
- Intestinal microbiota of patients with PJS(1year)
研究者
Yiqi Du
Professor
Changhai Hospital