Malignant HyperthermiaNCT04474860
Gene Mutation Spectrum of Malignant Hyperthermia in China
An observational study of Malignant Hyperthermia, run by West China Hospital at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Malignant Hyperthermia
- What is being tested?
- gene sequencing
- How many people
- 200 participants
- Where
- 1 siteChina
- Study dates
- 15 Jan 2019to Jan 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Clinically diagnosed MH patients in China and their blood relations
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
China1 site, 1 recruiting
- Recruiting
West China Hospital, Sichuan University
Chengdu, Sichuan, 610041
About this study
Official title: Study on Gene Mutation Spectrum of Malignant Hyperthermia in China Based on the Establishment of Bioinformatics Database
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.
Read the 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.
- Conditions
- Malignant Hyperthermia
- Being tested
- gene sequencing
- Keywords
- Malignant Hyperthermia, Gene mutation spectrum, Bioinformatics database
- Medical subject headings
- Malignant Hyperthermia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Diagnostic Test: gene sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Within data collection period (5 years total)
Secondary outcomes (2)
Clinical profiles and outcomes of patients with MH in China
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.
Measured: Within data collection period (5 years total)
The genetic law of MH family
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.
Measured: Within data collection period (5 years total)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jul 2020
- Study start15 Jan 2019
- Primary completionJan 2024 (estimated)
- Study completionJan 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Malignant HyperthermiaStudies of the same condition, open and under way.
- More trials run by West China HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- West China Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Bin Liu, West China Hospital
- Investigators
- Bin Liu, MD, Principal investigator, West China HospitalYunxia Zuo, MD, Principal investigator, West China Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04474860
- Sponsor's protocol ID
- 2018HXFH006
- Status last verified
- Nov 2021
- First submitted
- 13 Jul 2020
- Last updated
- 10 Nov 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 10 Nov 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study on Gene Mutation Spectrum of Malignant Hyperthermia in China Based on the Establishment of Bioinformatics Database
- ClinicalTrials.gov ID
- NCT04474860
- Acronym / sponsor ID
- 2018HXFH006
- Conditions
- Malignant Hyperthermia
- Keywords
- Malignant Hyperthermia, Gene mutation spectrum, Bioinformatics database
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- West China HospitalUniversity, hospital or other
- Study start
- 15 Jan 2019 (actual)
- Primary completion
- Jan 2024 (estimated)
- Study completion
- Jan 2024 (estimated)
- First posted
- 17 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Malignant Hyperthermia | – | Diagnostic Test: gene sequencingSamples 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Clinically diagnosed MH patients in China and their blood relations
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| gene sequencingGene 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. | Diagnostic test | Malignant Hyperthermia |
Primary outcome
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.
2 secondary outcomes
Clinical profiles and outcomes of patients with MH in China
Time frame: Within data collection period (5 years total)
The genetic law of MH family
Time frame: Within data collection period (5 years total)
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Nov 2021.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Bin Liu, MD principal investigator
West China Hospital
Yunxia Zuo, MD principal investigator
West China Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Malignant Hyperthermia, run by West China Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 10 Nov 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Bin Liu, MD (+86 18980601540, liubinhx@foxmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Pathogenic gene and mutation site of MH in Chinese (time frame: Within data collection period (5 years total)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Nov 2021.