Malignant HyperthermiaNCT03964870
Spanish Registry of RYR1 and CACNA1S Polymorphisms
An observational study of Malignant Hyperthermia and Polymorphisms in Genes RYR1 and CACNAS1S, run by Hospital Universitario La Fe at 1 site in Spain.
Trial summary
Study design: The Spanish registry of RYR1 and CACNA1S polymorphisms (RYCA) is an anonymous descriptive observational multicentre study that aims to identify and catalogue the variants or polymorphisms in the RYR1 and CACNA1S genes in the Spanish population. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Malignant Hyperthermia, Polymorphisms in Genes RYR1 and CACNAS1S
- What is being tested?
- Diagnostic of polymorphisms in malignant hyperthermia
- How many people
- 5,000 participants
- Where
- 1 siteSpain
- Study dates
- 5 Dec 2018to 5 Dec 2020
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Inclusion Criteria: Patents with malignant hyperthermia which genes RYR1 and CACNA1S have been sequenced for another pathology
The sample contained in the registry will originate from the genetic data of patients unrelated to malignant hyperthermia who have been sequenced the RYR1 and CACNA1S gene by another pathology. The data related to the genetic analysis will be provided without identifying data of the patient or the clinical history. There will be no possibility of identification of the patient by the team responsible for the RYCA registry, so the request for informed consent is not viable. There will be no selection of participants or patient follow-up.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Spanish Registry of RYR1 and CACNA1S Polymorphisms in Unselected Population for Evaluation of Malignant Hyperthermia Susceptibility (MHS). RYCA Registration
Study design: The Spanish registry of RYR1 and CACNA1S polymorphisms (RYCA) is an anonymous descriptive observational multicentre study that aims to identify and catalogue the variants or polymorphisms in the RYR1 and CACNA1S genes in the Spanish population. Secondarily, its correlation with the binding mutations described in both genes at European level by the EMHG will be evaluated to assess the incidence of malignant hyperthermia in Spain. The RYCA registry complies with the highest standards of European and international homologation, both with regard to computer security and the protection of personal data (Data Protection Law 15/1999).
Hypothesis: Performing a Spanish registry of RYR1 and CACNA1S polymorphisms will contribute to describe the variants present in our environment and determine their relationship with MH susceptibility.
Read more
Objectives:
- Describe the national polymorphisms of the RYR1 and CACNA1S genes
- To evaluate the incidence of genetic MH susceptibility according to the recommendations of the EMHG.
The presence of polymorphisms in a population that has not been studied before may have a difficult correlation with the mutations described in the EMHG webpage.
Eligibility Criteria: The sample contained in the registry will originate from the genetic data of patients unrelated to HM who have been sequenced the RYR1 and CACNA1S gene by another pathology. The data related to the genetic analysis will be provided without identifying data of the patient or the clinical history. There will be no possibility of identification of the patient by the team responsible for the RYCA registry, so the request for informed consent is not viable. There will be no selection of participants or patient follow-up.
Methodology: A preliminary pilot study will be conducted in an unselected anonymous cohort of the sequenced exome database of the RYR1 and CACNA1S gene at the La Fe Health Research Institute (IISlaFe). The population contained in this database is random and unrelated to HM and the patients are anonymous, so we do not have access to personal data or medical history. If the analysis is feasible, a request for collaboration will be transferred to the Genetics Services / Research Units with experience in the exome sequencing of the RYR1 and CACNA1S genes. Anonymous readings will be requested to carry out the registration and description of the variants existing in the Spanish population and their relationship with the variants described by the EMHG.
Variables: The registry will include the chromosomal coordinates, number of total patients included, number of patients whose variant is in heterozygosis, number of patients whose variant is in homozygosis and allelic frequency. Thus, for each of the genes of interest, and making use of their respective chromosomal coordinates, information regarding the variants that these might include will be extracted.
Sample size. Sample size calculation is not considered since it is a descriptive record.
- Being tested
- Diagnostic of polymorphisms in malignant hyperthermia
- 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.
Diagnostic of polymorphisms in malignant hyperthermiaDiagnostic test
Identify and catalogue the variants or polymorphisms in the RYR1 and CACNA1S genes in the Spanish population.
What is being measured
The primary outcome is the main question the study is designed to answer.
Describe the national polymorphisms of the RYR1 and CACNA1S genes
The peripheral blood must be extracted by venous puncture. For this, it is necessary to carry out the extraction of the blood by qualified health personnel respecting the corresponding hygienic-sanitary norms. The blood must be in a tube with EDTA anticoagulant (preferably). The method of extraction of peripheral blood DNA: is carried out mainly by automatic procedure using the QIASYMPHONY SP DNA extractor-purifying equipment and the QYASIM DNA MIDI KIT Kit (Qiagen), Cat. No: 931255, following the manufacturer's protocols.
The DNA extraction stage is collected in the GESTLAB system as SAMPLE PROCESSING (it comprises extraction and quantification via Nanodrop, as indicated below).
Measured: Day 1
To evaluate the incidence of genetic MH susceptibility according to the recommendations of the EMHG.
The peripheral blood must be extracted by venous puncture. For this, it is necessary to carry out the extraction of the blood by qualified health personnel respecting the corresponding hygienic-sanitary norms. The blood must be in a tube with EDTA anticoagulant (preferably). The method of extraction of peripheral blood DNA: is carried out mainly by automatic procedure using the QIASYMPHONY SP DNA extractor-purifying equipment and the QYASIM DNA MIDI KIT Kit (Qiagen), Cat. No: 931255, following the manufacturer's protocols.
The DNA extraction stage is collected in the GESTLAB system as SAMPLE PROCESSING (it comprises extraction and quantification via Nanodrop, as indicated below).
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 May 2019
- Study start5 Dec 2018
- Primary completion5 Nov 2020 (estimated)
- Study completion5 Dec 2020 (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.
- 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
- 5,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospital Universitario La Fe
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Oscar Diaz-Cambronero, Hospital Universitario La Fe
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03964870
- Sponsor's protocol ID
- RYCA
- Status last verified
- May 2019
- First submitted
- 22 May 2019
- Last updated
- 29 May 2019
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 May 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Spanish Registry of RYR1 and CACNA1S Polymorphisms in Unselected Population for Evaluation of Malignant Hyperthermia Susceptibility (MHS). RYCA Registration
- ClinicalTrials.gov ID
- NCT03964870
- Acronym / sponsor ID
- RYCA
- Keywords
- Malignant Hyperthermia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Hospital Universitario La FeUniversity, hospital or other
- Study start
- 5 Dec 2018 (actual)
- Primary completion
- 5 Nov 2020 (estimated)
- Study completion
- 5 Dec 2020 (estimated)
- First posted
- 28 May 2019 (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.
Study design: The Spanish registry of RYR1 and CACNA1S polymorphisms (RYCA) is an anonymous descriptive observational multicentre study that aims to identify and catalogue the variants or polymorphisms in the RYR1 and CACNA1S genes in the Spanish population. Secondarily, its correlation with the binding mutations described in both genes at European level by the EMHG will be evaluated to assess the incidence of malignant hyperthermia in Spain. The RYCA registry complies with the highest standards of European and international homologation, both with regard to computer security and the protection of personal data (Data Protection Law 15/1999).
Hypothesis: Performing a Spanish registry of RYR1 and CACNA1S polymorphisms will contribute to describe the variants present in our environment and determine their relationship with MH susceptibility.
Objectives:
- Describe the national polymorphisms of the RYR1 and CACNA1S genes
- To evaluate the incidence of genetic MH susceptibility according to the recommendations of the EMHG.
The presence of polymorphisms in a population that has not been studied before may have a difficult correlation with the mutations described in the EMHG webpage.
Eligibility Criteria: The sample contained in the registry will originate from the genetic data of patients unrelated to HM who have been sequenced the RYR1 and CACNA1S gene by another pathology. The data related to the genetic analysis will be provided without identifying data of the patient or the clinical history. There will be no possibility of identification of the patient by the team responsible for the RYCA registry, so the request for informed consent is not viable. There will be no selection of participants or patient follow-up.
Methodology: A preliminary pilot study will be conducted in an unselected anonymous cohort of the sequenced exome database of the RYR1 and CACNA1S gene at the La Fe Health Research Institute (IISlaFe). The population contained in this database is random and unrelated to HM and the patients are anonymous, so we do not have access to personal data or medical history. If the analysis is feasible, a request for collaboration will be transferred to the Genetics Services / Research Units with experience in the exome sequencing of the RYR1 and CACNA1S genes. Anonymous readings will be requested to carry out the registration and description of the variants existing in the Spanish population and their relationship with the variants described by the EMHG.
Variables: The registry will include the chromosomal coordinates, number of total patients included, number of patients whose variant is in heterozygosis, number of patients whose variant is in homozygosis and allelic frequency. Thus, for each of the genes of interest, and making use of their respective chromosomal coordinates, information regarding the variants that these might include will be extracted.
Sample size. Sample size calculation is not considered since it is a descriptive record.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Inclusion Criteria: Patents with malignant hyperthermia which genes RYR1 and CACNA1S have been sequenced for another pathology
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 |
|---|---|---|
| Diagnostic of polymorphisms in malignant hyperthermiaIdentify and catalogue the variants or polymorphisms in the RYR1 and CACNA1S genes in the Spanish population. | Diagnostic test | – |
Primary outcome
Describe the national polymorphisms of the RYR1 and CACNA1S genes
Time frame: Day 1
The peripheral blood must be extracted by venous puncture. For this, it is necessary to carry out the extraction of the blood by qualified health personnel respecting the corresponding hygienic-sanitary norms. The blood must be in a tube with EDTA anticoagulant (preferably). The method of extraction of peripheral blood DNA: is carried out mainly by automatic procedure using the QIASYMPHONY SP DNA extractor-purifying equipment and the QYASIM DNA MIDI KIT Kit (Qiagen), Cat. No: 931255, following the manufacturer's protocols. The DNA extraction stage is collected in the GESTLAB system as SAMPLE PROCESSING (it comprises extraction and quantification via Nanodrop, as indicated below).
To evaluate the incidence of genetic MH susceptibility according to the recommendations of the EMHG.
Time frame: Day 1
The peripheral blood must be extracted by venous puncture. For this, it is necessary to carry out the extraction of the blood by qualified health personnel respecting the corresponding hygienic-sanitary norms. The blood must be in a tube with EDTA anticoagulant (preferably). The method of extraction of peripheral blood DNA: is carried out mainly by automatic procedure using the QIASYMPHONY SP DNA extractor-purifying equipment and the QYASIM DNA MIDI KIT Kit (Qiagen), Cat. No: 931255, following the manufacturer's protocols. The DNA extraction stage is collected in the GESTLAB system as SAMPLE PROCESSING (it comprises extraction and quantification via Nanodrop, as indicated below).
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 May 2019.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 and Polymorphisms in Genes RYR1 and CACNAS1S, run by Hospital Universitario La Fe at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 29 May 2019. 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 Spain. 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?
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?
Describe the national polymorphisms of the RYR1 and CACNA1S genes (time frame: Day 1). The study lists 2 primary outcomes in all. 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 29 May 2019.