Screening of Malignant Hyperthermia Susceptible Individuals

NCT05402839 | Recruiting

• 1 other identifier: MR-11-22-002000
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Malignant Hyperthermia

Outcome Measures

Primary Outcomes (1)

• Whole exome sequencing

  immediately after MH was diagnosed

Eligibility Criteria

• Age: 0 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Peking University Third Hospital: lead

Study Sites (1)

Peking University Third Hospital

Beijing, Beijing Municipality, 100191, China

RECRUITING

MeSH Terms

Conditions

Malignant Hyperthermia

Condition Hierarchy (Ancestors)

Intraoperative Complications; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Postoperative Complications; Hyperthermia; Body Temperature Changes; Signs and Symptoms

Central Study Contacts

Yinyin Qu, M.D.

CONTACT

+8613466759889; quyinyin@bjmu.edu.cn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief of the department of anesthesiology

Study Record Dates

• First Submitted: May 30, 2022
• First Posted: June 2, 2022
• Study Start: February 22, 2022
• Primary Completion (Estimated): February 1, 2041
• Study Completion (Estimated): February 1, 2041
• Last Updated: June 2, 2022

Record last verified: 2022-05

Locations

CN (1)