- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04474860
Gene Mutation Spectrum of Malignant Hyperthermia in China
Study on Gene Mutation Spectrum of Malignant Hyperthermia in China Based on the Establishment of Bioinformatics Database
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
When MH cases or suspected cases occur in China, anesthesiologists can seek help through malignant hyperthermia emergency rescue WeChat group in which experts from all over the country will give therapy instructions. Afterwards, the responsible anesthesiologist will complete the case report form (CRF) and collect family history of MH. The quality of CRF is reviewed by the investigator and all the queries are solved within 1~2 weeks.
Upon obtaining the informed consent, all biological specimens of MH confirmed or suspected patients and their blood relations will be collected in the local hospitals and transported to West China Hospital, Sichuan University in dry ice packaging. All specimens will be checked by the trained investigator, registered and labeled in a standardized manner, and then stored in the biological sample bank of West China Hospital, Sichuan University.
Firstly, investigators will use the method of gene fragment analysis to detect the samples at the diagnostic mutation sites included in the current European malignant hyperthermia group. Secondly, investigators will use sanger sequencing method to verify the mutation variants. If the screening results are negative, then 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.
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Bin Liu, MD
- Phone Number: +86 18980601540
- Email: liubinhx@foxmail.com
Study Contact Backup
- Name: Jun Ma, MD
- Phone Number: +86 15882167753
- Email: 2711416695@qq.com
Study Locations
-
-
Sichuan
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Chengdu, Sichuan, China, 610041
- Recruiting
- West China Hospital, Sichuan University
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Chinese whose malignant hyperthermia susceptibility had been confirmed after a positive clinical manifestation of malignant hyperthermia which defined as their scores of clinical grading scale for malignant hyperthermia are more than 35 and their blood relations.
- Sign informed consent
Exclusion Criteria:
- Patients who have no adverse anaesthetic event, such as those patients referred with a history of exertional heat illness, exertional or recurrent rhabdomyolysis, or a congenital myopathy.
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Malignant Hyperthermia
Samples from Chinese whose malignant hyperthermia susceptibility had been confirmed after a positive clinical manifestation of malignant hyperthermia and samples from their blood relations will receive genetic testing.
|
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.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Pathogenic gene and mutation site of MH in Chinese
Time Frame: Within data collection period (5 years total)
|
Samples from patients with MH and their blood relations in China will be detected by gene fragment analysis and then verified by Sanger sequencing method and/or detected by high-throughput whole-genome sequencing to find the pathogenic gene and mutation site of MH in Chinese.
|
Within data collection period (5 years total)
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Clinical profiles and outcomes of patients with MH in China
Time Frame: Within data collection period (5 years total)
|
This study will summarize the Clinical profiles of patients with MH in China by collecting and analyzing case information of patients with MH from all over China.
|
Within data collection period (5 years total)
|
The genetic law of MH family
Time Frame: Within data collection period (5 years total)
|
Collecting samples from the MH patients and their blood relations and undertaking gene fragment analysis, Sanger sequencing method and/or high-throughput whole-genome sequencing, family genitive tree for MH will be then drawn.
|
Within data collection period (5 years total)
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Bin Liu, MD, West China Hospital
- Principal Investigator: Yunxia Zuo, MD, West China Hospital
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2018HXFH006
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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