Malignant HyperthermiaMHCZECHNCT05036148
Malignant Hyperthermia in Czech Republic: Description of the Biggest Slavonic Group of Patients Investigated for Risk of Malignant Hyperthermia
An observational study of Malignant Hyperthermia, run by Brno University Hospital at 1 site in Czechia.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 1 month to 99 years
- Conditions the study is for
- Malignant Hyperthermia
- What is being tested?
- Data analysis
- How many people
- 286 participants
- Where
- 1 siteCzechia
- Study dates
- 1 Sep 2021to 31 Dec 2021
- 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 1 month to 99 years
- All sexes
- Child, Adult, Older adult
Study population: Patient indiaceted to MH centre for MH diagnostic
Who may be able to join
- Patients indicated to MH center for MH diagnostic
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
Czechia1 site
Brno University Hospital - Academic Centre for Malignant Hyperthermia of Masaryk University Brno
Brno, South Moravian, 62500
About this study
Official title: Malignant Hyperthermia in Czech Republic: Description of the Biggest Slavonic Group of Patients Investigated for Risk of Malignant Hyperthermia (MH): Retrospective MH Registry Analysis
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.
Read the 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).
- Conditions
- Malignant Hyperthermia
- Being tested
- Data analysis
- Keywords
- Malignant Hyperthermia
- Medical subject headings
- Malignant Hyperthermia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Data analysisOther
MH registry data will be screened for MH positive diagnosis
| Study group | Role | What they receive |
|---|---|---|
| Patients indicated for MH screening | Patients referred to MH center for MH diagnostic Receives: Other: Data analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
prevalence of MH in our cohort of patients
Data registry will be screened for positive MH results
Measured: 20 years retrospectively
Secondary outcomes (2)
prevalence of occurrence diagnostic variants in MHS group of patients.
Data registry will be screened for different MH gene variants
Measured: 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.
Measured: 20 years retrospectively
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Sep 2021
- Study start1 Sep 2021
- Primary completion31 Dec 2021
- Study completion31 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Malignant HyperthermiaStudies of the same condition, open and under way.
- 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
- Retrospective
- Enrolment
- 286 participants (actual)
Sponsor and investigators
- Lead sponsor
- Brno University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Masaryk University
- Responsible party
- Principal investigator, Petr Štourač, MD, Brno University Hospital
- Investigators
- Petr Stourac, prof. MD., Ph.D., Study chair, Department of paediatric anaesthesia and intensive care
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05036148
- Sponsor's protocol ID
- KDAR FN Brno MH
- Acronym
- MHCZECH
- Status last verified
- Apr 2022
- First submitted
- 27 Jul 2021
- Last updated
- 15 Apr 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Klincova M, Zidkova J, Reblova K, Stepankova D, Schroderova I, Gaillyova R, Bonischova T, Havrankova N, Tomaskova V, Kramarova T, Fajkusova L, Stourac P. Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics. Orphanet J Rare Dis. 2026 Mar 31;21(1):192. doi: 10.1186/s13023-026-04339-w.
PubMed 41913278
Study at a glance
From the registry record, last updated by the sponsor on 15 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Malignant Hyperthermia in Czech Republic: Description of the Biggest Slavonic Group of Patients Investigated for Risk of Malignant Hyperthermia (MH): Retrospective MH Registry Analysis
- ClinicalTrials.gov ID
- NCT05036148
- Acronym / sponsor ID
- MHCZECH / KDAR FN Brno MH
- Conditions
- Malignant Hyperthermia
- Keywords
- Malignant Hyperthermia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 286 participants (actual)
- Lead sponsor
- Brno University HospitalUniversity, hospital or other
- Collaborators
- Masaryk University
- Study start
- 1 Sep 2021 (actual)
- Primary completion
- 31 Dec 2021 (actual)
- Study completion
- 31 Dec 2021 (actual)
- First posted
- 5 Sep 2021 (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.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients indicated for MH screening | – | Other: Data analysisPatients referred to MH center for MH diagnostic |
Who may qualify
- Ages
- 1 month to 99 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Patient indiaceted to MH centre for MH diagnostic
Key inclusion criteria (1 listed)
- Patients indicated to MH center for MH diagnostic
Key exclusion criteria (5 listed)
- 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.
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 |
|---|---|---|
| Data analysisMH registry data will be screened for MH positive diagnosis | Other | Patients indicated for MH screening |
Primary outcome
prevalence of MH in our cohort of patients
Time frame: 20 years retrospectively
Data registry will be screened for positive MH results
2 secondary outcomes
prevalence of occurrence diagnostic variants in MHS group of patients.
Time frame: 20 years retrospectively
prevalence of each found diagnostic variant in our Czech-and-Slovak cohort of patients.
Time frame: 20 years retrospectively
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Apr 2022.
- Derived from this study: PubMed 41913278Klincova M, Zidkova J, Reblova K, Stepankova D, Schroderova I, Gaillyova R, Bonischova T, Havrankova N, Tomaskova V, Kramarova T, Fajkusova L, Stourac P. Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics. Orphanet J Rare Dis. 2026 Mar 31;21(1):192. doi: 10.1186/s13023-026-04339-w.
- 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.
Petr Stourac, prof. MD., Ph.D. study chair
Department of paediatric anaesthesia and intensive care
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 Brno University Hospital at 1 site in Czechia.
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 1 inclusion and 5 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: finished, as of the sponsor's last update on 15 Apr 2022. 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 Czechia. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
prevalence of MH in our cohort of patients (time frame: 20 years retrospectively). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05036148, which also lists 1 linked publication.
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 15 Apr 2022.