NCT04474860

Brief 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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jan 2019

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 15, 2019

Completed
1.5 years until next milestone

First Submitted

Initial submission to the registry

July 13, 2020

Completed
4 days until next milestone

First Posted

Study publicly available on registry

July 17, 2020

Completed
3.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2024

Completed
Last Updated

November 10, 2021

Status Verified

November 1, 2021

Enrollment Period

5 years

First QC Date

July 13, 2020

Last Update Submit

November 9, 2021

Conditions

Malignant Hyperthermia

Keywords

Malignant HyperthermiaGene mutation spectrumBioinformatics database

Outcome Measures

Primary Outcomes (1)

  • Pathogenic gene and mutation site of MH in Chinese

    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 Outcomes (2)

  • Clinical profiles and outcomes of patients with MH in China

    Within data collection period (5 years total)

  • The genetic law of MH family

    Within data collection period (5 years total)

Study Arms (1)

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.

Diagnostic Test: gene sequencing

Interventions

gene sequencingDIAGNOSTIC_TEST

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.

Malignant Hyperthermia

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Clinically diagnosed MH patients in China and their blood relations

You may qualify if:

  • 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

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

West China Hospital, Sichuan University

Chengdu, Sichuan, 610041, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Malignant Hyperthermia

Interventions

Base Sequence

Condition Hierarchy (Ancestors)

Intraoperative ComplicationsPathologic ProcessesPathological Conditions, Signs and SymptomsPostoperative ComplicationsHyperthermiaBody Temperature ChangesSigns and Symptoms

Intervention Hierarchy (Ancestors)

Molecular StructureBiochemical PhenomenaChemical PhenomenaGenetic StructuresGenetic Phenomena

Study Officials

  • Bin Liu, MD

    West China Hospital

    PRINCIPAL INVESTIGATOR

  • Yunxia Zuo, MD

    West China Hospital

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Bin Liu, MD

CONTACT

+86 18980601540liubinhx@foxmail.com

Jun Ma, MD

CONTACT

+86 158821677532711416695@qq.com

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

July 13, 2020

First Posted

July 17, 2020

Study Start

January 15, 2019

Primary Completion

January 1, 2024

Study Completion

January 1, 2024

Last Updated

November 10, 2021

Record last verified: 2021-11

Locations

CN(1)