Molecular Genetics Study on Screening of Malignant Hyperthermia Susceptible Individuals
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 50
- Locations
- 1
- Primary Endpoint
- Whole exome sequencing
Study Overview
Brief Summary
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 0 Years to 100 Years (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Patients undergoing surgery under general anesthesia during the study period developed malignant hyperthermia during or after surgery.
Exclusion Criteria
- •Malignant hyperthermia was ruled out by later treatment and diagnosis;
- •The patient or family member refuses to be recruited.
Outcomes
Primary Outcomes
Whole exome sequencing
Time Frame: immediately after MH was diagnosed
Secondary Outcomes
No secondary outcomes reported
Investigators
Guo Xiangyang
Chief of the department of anesthesiology
Peking University Third Hospital