Gene Mutation Spectrum of Malignant Hyperthermia in China
关键词
抽象
描述
When MH cases or suspected cases occur in China, anesthesiologists can seek help through malignant hyperthermia emergency rescue WeChat group in which experts from all over the country will give therapy instructions. Afterwards, the responsible anesthesiologist will complete the case report form (CRF) and collect family history of MH. The quality of CRF is reviewed by the investigator and all the queries are solved within 1~2 weeks.
Upon obtaining the informed consent, all biological specimens of MH confirmed or suspected patients and their blood relations will be collected in the local hospitals and transported to West China Hospital, Sichuan University in dry ice packaging. All specimens will be checked by the trained investigator, registered and labeled in a standardized manner, and then stored in the biological sample bank of West China Hospital, Sichuan University.
Firstly, investigators will use the method of gene fragment analysis to detect the samples at the diagnostic mutation sites included in the current European malignant hyperthermia group. Secondly, investigators will use sanger sequencing method to verify the mutation variants. If the screening results are negative, then high-throughput whole-genome sequencing will be performed.
The MH bioinformatics database will be established to find the pathogenic gene and mutation site of MH in Chinese. Based on the bioinformatics database, the genetic law of MH family will be studied. According to the results of the study, the guideline for the diagnosis and treatment of MH that is in line with Chinese population biology characteristics will be formulated.
日期
| 最后验证: | 06/30/2020 |
| 首次提交: | 07/12/2020 |
| 提交的预估入学人数: | 07/12/2020 |
| 首次发布: | 07/16/2020 |
| 上次提交的更新: | 07/19/2020 |
| 最近更新发布: | 07/21/2020 |
| 实际学习开始日期: | 01/14/2019 |
| 预计主要完成日期: | 12/31/2023 |
| 预计完成日期: | 12/31/2023 |
状况或疾病
干预/治疗
Diagnostic Test: Malignant Hyperthermia
相
手臂组
| 臂 | 干预/治疗 |
|---|---|
| Malignant Hyperthermia Samples from Chinese whose malignant hyperthermia susceptibility had been confirmed after a positive clinical manifestation of malignant hyperthermia and samples from their blood relations will receive genetic testing. | Diagnostic Test: Malignant Hyperthermia Gene fragment analysis, Sanger sequencing method and/or high-throughput whole-genome sequencing will be performed to find the pathogenic gene and mutation site of MH in Chinese population. |
资格标准
| 有资格学习的性别 | All |
| 取样方式 | Non-Probability Sample |
| 接受健康志愿者 | 是 |
| 标准 | Inclusion Criteria: - Chinese whose malignant hyperthermia susceptibility had been confirmed after a positive clinical manifestation of malignant hyperthermia which defined as their scores of clinical grading scale for malignant hyperthermia are more than 35 and their blood relations. - Sign informed consent Exclusion Criteria: - Patients who have no adverse anaesthetic event, such as those patients referred with a history of exertional heat illness, exertional or recurrent rhabdomyolysis, or a congenital myopathy. |
结果
主要结果指标
1. Pathogenic gene and mutation site of MH in Chinese [Within data collection period (5 years total)]
次要成果指标
1. Clinical profiles and outcomes of patients with MH in China [Within data collection period (5 years total)]
2. The genetic law of MH family [Within data collection period (5 years total)]
