Screening of Malignant Hyperthermia Susceptible Individuals

Molecular Genetics Study on Screening of Malignant Hyperthermia Susceptible Individuals

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 Overview

• Status: Recruiting
• Conditions: Malignant Hyperthermia

• Study Type: Observational
• Enrollment (Anticipated): 50

Contacts and Locations

• Study Contact: Name: Yinyin Qu, M.D.; Phone Number: +8613466759889; Email: quyinyin@bjmu.edu.cn

Study Locations

• China
  • Beijing
    • Beijing, Beijing, China, 100191
      • Recruiting
      • Peking University Third Hospital
      • Contact: Yinyin Qu, M.D.; Phone Number: +8613466759889; Email: quyinyin@bjmu.edu.cn
      • Sub-Investigator: Zhengqian Li, Ph.D., M.D.
      • Sub-Investigator: Yinyin Qu, M.D.
      • Sub-Investigator: Yang Zhou, M.D.
      • Sub-Investigator: Yongzheng Han, M.D.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 100 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Since the incidence of malignant hyperthermia is low (1/50,000 in adults, 1/15,000 in children), it is a rare disease, so this study will continue for 10-20 years. This study is an observational study, so the sample is estimated based on the past incidence of this rare disease. The amount is about 50 patients.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Whole exome sequencing	immediately after MH was diagnosed

Collaborators and Investigators

• Sponsor: Peking University Third Hospital

Study record dates

Study Major Dates

• Study Start (Actual): February 22, 2022
• Primary Completion (Anticipated): February 1, 2041
• Study Completion (Anticipated): February 1, 2041

Study Registration Dates

• First Submitted: May 30, 2022
• First Submitted That Met QC Criteria: May 30, 2022
• First Posted (Actual): June 2, 2022

Study Record Updates

• Last Update Posted (Actual): June 2, 2022
• Last Update Submitted That Met QC Criteria: May 30, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Postoperative Complications; Wounds and Injuries; Body Temperature Changes; Heat Stress Disorders; Intraoperative Complications; Hyperthermia; Fever; Malignant Hyperthermia
• Other Study ID Numbers: MR-11-22-002000

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No