Molecular Genetics Study on Screening of Malignant Hyperthermia Susceptible Individuals
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Whole exome sequencing
研究概览
简要总结
This study intends to target patients who underwent surgery under general anesthesia during the study period and developed malignant hyperthermia during or after surgery. Therefore, the total sample size was estimated to be about 50 people based on the past incidence of this rare disease. Every year, about 20 patients and their families who developed malignant hyperthermia during or after surgery will participate in this nationwide study (estimated by the current incidence of malignant hyperthermia), and about 1-5 patients will be admitted to Peking University Third Hospital participate in this research. Relevant specimens were collected from malignant hyperthermia (MH) patients and their family members for genetic analysis to determine the mutation of MH-related pathogenic gene loci.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients undergoing surgery under general anesthesia during the study period developed malignant hyperthermia during or after surgery.
排除标准
- •Malignant hyperthermia was ruled out by later treatment and diagnosis;
- •The patient or family member refuses to be recruited.
结局指标
主要结局
Whole exome sequencing
时间窗: immediately after MH was diagnosed
次要结局
未报告次要终点
研究者
Guo Xiangyang
Chief of the department of anesthesiology
Peking University Third Hospital