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Gene Mutation Spectrum of Malignant Hyperthermia in China

NCT04474860 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2021-11-10

No results posted yet for this study

Summary

In this study, case information and specimens of patients with malignant hyperthermia(MH) will be collected from all over China, and gene fragment analysis, sanger sequencing method and/or 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.

Conditions

  • Malignant Hyperthermia

Interventions

DIAGNOSTIC_TEST

gene sequencing

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.

Sponsors & Collaborators

  • West China Hospital

    lead OTHER

Principal Investigators

  • Bin Liu, MD · West China Hospital

  • Yunxia Zuo, MD · West China Hospital

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-01-15
Primary Completion
2024-01-31
Completion
2024-01-31

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04474860 on ClinicalTrials.gov