- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05036148
Malignant Hyperthermia in Czech Republic: Description of the Biggest Slavonic Group of Patients Investigated for Risk of Malignant Hyperthermia (MHCZECH)
Malignant Hyperthermia in Czech Republic: Description of the Biggest Slavonic Group of Patients Investigated for Risk of Malignant Hyperthermia (MH): Retrospective MH Registry Analysis
Study Overview
Detailed Description
We evaluated every referral to the MH centre since 2002 then. IVCT results, clinical data, personal and family history and molecular genetic data, have been recorded in an electronic medical record. Potential MHS patients, probands, were investigated according to the European Malignant Hyperthermia Group (EMHG) recommendations using IVCT and/or RYR1 and CACNA1S sequence variant screening. Each proband is a representative of one unrelated family. As the diagnostic guidelines were changing in the time, so was our diagnostic algorithm with the development of new knowledge and methods.
Originally before 2015, for each proband or the nearest relative in case that the index case could not be tested, MH must be confirmed/excluded by IVCT. Only with a positive IVCT positive result (MHS, MHEh, MHEc), genetic diagnosis was originated.
iIn 2015, a new EMHG guideline for the diagnosis of MH was issued and significantly moved the DNA diagnosis of MH to the forefront and we started to use genetic testing as a first diagnostic step. Not finding the diagnostic variant does not exclude MH susceptibility and IVCT needs to follow for final diagnosis. IVCT has been providing according to the best practise and EMGH guidelines.
So far, the genetic diagnosis of MH in the Czech Republic has been in several stages - starting with standard scoring of 33 most common causal diagnostic variants of the RYR1 gene by using multiplex ligation-dependent probe amplification (MLPA) (SALSA MLPA probemix P281-A3/P282-A3 RYR1, MRC Holand). In case of a negative result, direct sequence analysis of the RYR1 and CACNA1S gene sections followed, where the remaining causal diagnostic variants occur. Since 2021 MLPA and direct sequencing of hot spots regions of RYR1 and CACNA1S was routinely replaced by next-generation sequencing (NGS) at the level of a panel of genes associated with neuromuscular diseases (including RYR1, CACNA1S and STAC3).
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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South Moravian Region
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Brno, South Moravian Region, Czechia, 62500
- Brno University Hospital - Academic Centre for Malignant Hyperthermia of Masaryk University Brno
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Patients indicated to MH center for MH diagnostic
Exclusion Criteria:
- conditions clearly not related to MH, e.g. neuromuscular diseases
- syndromes without MH risk; anaesthetic complications without MH symptoms, e.g. prolongated awakening due to deficit of cholinesterase
- probands with missing data
- probands with yet not closed MH diagnostic process (waiting for genetics or IVCT, myopatic patients without MH diagnostic variant where the IVCT was not recommended because of its invasivity)
- non-compliant probands, who refused the diagnostic process.
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Patients indicated for MH screening
Patients referred to MH center for MH diagnostic
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MH registry data will be screened for MH positive diagnosis
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
prevalence of MH in our cohort of patients
Time Frame: 20 years retrospectively
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Data registry will be screened for positive MH results
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20 years retrospectively
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
prevalence of occurrence diagnostic variants in MHS group of patients.
Time Frame: 20 years retrospectively
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Data registry will be screened for different MH gene variants
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20 years retrospectively
|
prevalence of each found diagnostic variant in our Czech-and-Slovak cohort of patients.
Time Frame: 20 years retrospectively
|
Data registry will be screened for each found diagnostic variant in our Czech-and-Slovak cohort of patients.
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20 years retrospectively
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Study Chair: Petr Stourac, prof. MD., Ph.D., Department of paediatric anaesthesia and intensive care
Study record dates
Study Major Dates
Study Start (ACTUAL)
Primary Completion (ACTUAL)
Study Completion (ACTUAL)
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
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- KDAR FN Brno MH
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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