Screening of Malignant Hyperthermia Susceptible Individuals

Recruiting

• Conditions: Malignant Hyperthermia

• Registration Number: NCT05402839
• Lead Sponsor: Peking University Third Hospital

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2022-02-22
• Status Verified: 2022-05
• Study First Submitted: 2022-05-30
• Study First Submitted QC: 2022-05-30
• Last Update Submitted: 2022-05-30
• Study First Posted: 2022-06-02
• Last Update Posted: 2022-06-02
• Primary Completion: 2041-02
• Study Completion: 2041-02

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• Patients undergoing surgery under general anesthesia during the study period developed malignant hyperthermia during or after surgery.

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Exclusion Criteria

• Malignant hyperthermia was ruled out by later treatment and diagnosis;
• The patient or family member refuses to be recruited.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Whole exome sequencing	immediately after MH was diagnosed

Trial Locations

Locations (1)

Peking University Third Hospital; 🇨🇳 Beijing, Beijing, China