An observational study in Malignant Hyperthermia, sponsored by Brno University Hospital. Completed at 1 site in Czechia. Open to participants aged 1 Month to 99 Years. Per ClinicalTrials.gov, last updated 2022-04-15.
Sponsored by Brno University Hospital · Observational
The Academic centre for Malignant Hyperthermia of Masaryk University (ACMHMU) was established in 2021 in Brno, Czech Republic and consists of four academic departments of Medical Faculty of Masaryk University in two tertiary university hospitals, University Hospital Brno and St. Anne Faculty Hospital. These departments collaborated and operated since 2002 and since 2019 is Brno one of the of centre of EMHG (www.emhg.org). Aim of this study was to describe the Czech and Slovak (CZ-SK) cohort of MHS patients, the biggest Slavonic MHS cohort known by now, and to fill the knowledge gap about the Slavonic population in perspective of MH.
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).
478 studies on the registry are indexed under Hyperthermia; 92 are open to participants now.
This study's enrollment of 286 is above the median of 200 across 88 observational studies indexed under Hyperthermia.
Browse Hyperthermia studies →Brno University Hospital is the lead sponsor of 91 studies on the registry; 22 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patient indiaceted to MH centre for MH diagnostic
Exclusion Criteria:
Patients referred to MH center for MH diagnostic
Other: Data analysis
MH registry data will be screened for MH positive diagnosis
prevalence of MH in our cohort of patients
Data registry will be screened for positive MH results
Time frame: 20 years retrospectively
prevalence of occurrence diagnostic variants in MHS group of patients.
Data registry will be screened for different MH gene variants
Time frame: 20 years retrospectively
prevalence of each found diagnostic variant in our Czech-and-Slovak cohort of patients.
Data registry will be screened for each found diagnostic variant in our Czech-and-Slovak cohort of patients.
Time frame: 20 years retrospectively
Plan to share: Undecided
No publications or documents are linked to this record.
This study is completed, as verified in Apr 2022. You cannot join it, but the record below documents what was studied.
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Brno University Hospital