Long QT SyndromeRISKOVERNCT05274646
Impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A
An observational study of Long QT Syndrome and Brugada Syndrome, run by Centre Hospitalier Universitaire de la Réunion at 1 site in Reunion.
Trial summary
In patients expressing the SCN5A-E1784K mutation (Glu1784Lys), cardiovascular risk is difficult to define as the stratification of these patients is challenging. From our experience, major cardiovascular events (MCE) tend to occur more frequently in patients expressing overlap syndrome phenotype (Brugada syndrome and… Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Long QT Syndrome, Brugada Syndrome, Cardiac Conduction System Disease
- How many people
- 47 participants
- Where
- 1 siteReunion
- Study dates
- 5 Apr 2022to 20 Mar 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 12 years and older
- All sexes
- Child, Adult, Older adult
Study population: patients with hereditary cardiac disease
Who may be able to join
- genotype E1784K (glu1784lys) in SCN5A gene
Who cannot join
- none
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Impact on Risk Stratification of Overlap Syndrome Phenotype (Brugada and Long QT Type 3) in Patients With E1784K Mutation in SCN5A
In patients expressing the SCN5A-E1784K mutation (Glu1784Lys), cardiovascular risk is difficult to define as the stratification of these patients is challenging. From our experience, major cardiovascular events (MCE) tend to occur more frequently in patients expressing overlap syndrome phenotype (Brugada syndrome and Long QT syndrome type 3)than in patients expressing a single phenotype (whether Brugada syndrome or Long QT syndrome type 3). This trials is led on the impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A ( RISKOVER )
Read the detailed description
Study design: This study will compare the occurrence of MCE between patients with overlap syndrome phenotype and patients with a single phenotype (whether Brugada syndrome or Long QT syndrome type 3) in a cohort of patients 12 years of age and older with the SCN5A-E1784K mutation. Eligible patients will be identified nationwide and included retrospectively and prospectively. Occurrence of MCE between the group " overlap syndrome " and the group " single phenotype " will be compared.
- Conditions
- Long QT Syndrome, Brugada Syndrome, Cardiac Conduction System Disease, Arrhythmias, Cardiac
- Keywords
- Long QT syndrome type 3, Brugada Syndrome, SCN5A gene, E1784K mutation, Cardiac arrhythmias, Cardiac conduction system disease, phenotypic overlap, overlap syndrome, sodium channelopathie
- Medical subject headings
- Long QT Syndrome, Brugada Syndrome, Cardiac Conduction System Disease, Arrhythmias, Cardiac, Long QT syndrome type 3, Long Qt Syndrome 3
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| E1784K (glu1784lys) in SCN5A expressing either Long QT syndrome type 3 or Brugada syndrome | Not described | |
| E1784K (glu1784lys) in SCN5A expressing both syndromes (Long QT syndrome and Brugada syndrome) | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Occurrence of MCE
occurrence of syncop, sudden cardiac death, ventricular arrhythmia, cardiopulmonary arrest collected by a series of medical questions
Measured: at inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Mar 2022
- Study start5 Apr 2022
- Primary completion20 Mar 2024
- Study completion20 Mar 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Long QT SyndromeStudies 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
- Case only
- Time perspective
- Other
- Enrolment
- 47 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de la Réunion
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Maxime CHURET, MD, Principal investigator, CHU de La Réunion
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05274646
- Sponsor's protocol ID
- 2021/CHU/36
- Acronym
- RISKOVER
- Status last verified
- Jul 2025
- First submitted
- 2 Mar 2022
- Last updated
- 5 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Impact on Risk Stratification of Overlap Syndrome Phenotype (Brugada and Long QT Type 3) in Patients With E1784K Mutation in SCN5A
- ClinicalTrials.gov ID
- NCT05274646
- Acronym / sponsor ID
- RISKOVER / 2021/CHU/36
- Conditions
- Long QT Syndrome, Brugada Syndrome, Cardiac Conduction System Disease, Arrhythmias, Cardiac
- Keywords
- Long QT syndrome type 3, Brugada Syndrome, SCN5A gene, E1784K mutation, Cardiac arrhythmias, Cardiac conduction system disease, phenotypic overlap, overlap syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 47 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de la RéunionUniversity, hospital or other
- Study start
- 5 Apr 2022 (actual)
- Primary completion
- 20 Mar 2024 (actual)
- Study completion
- 20 Mar 2024 (actual)
- First posted
- 10 Mar 2022 (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 patients expressing the SCN5A-E1784K mutation (Glu1784Lys), cardiovascular risk is difficult to define as the stratification of these patients is challenging. From our experience, major cardiovascular events (MCE) tend to occur more frequently in patients expressing overlap syndrome phenotype (Brugada syndrome and Long QT syndrome type 3)than in patients expressing a single phenotype (whether Brugada syndrome or Long QT syndrome type 3). This trials is led on the impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A ( RISKOVER )
Detailed description
Study design: This study will compare the occurrence of MCE between patients with overlap syndrome phenotype and patients with a single phenotype (whether Brugada syndrome or Long QT syndrome type 3) in a cohort of patients 12 years of age and older with the SCN5A-E1784K mutation. Eligible patients will be identified nationwide and included retrospectively and prospectively. Occurrence of MCE between the group " overlap syndrome " and the group " single phenotype " will be compared.
Study design
- Observational model
- Case only
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| E1784K (glu1784lys) in SCN5A expressing either Long QT syndrome type 3 or Brugada syndrome | – | – |
| E1784K (glu1784lys) in SCN5A expressing both syndromes (Long QT syndrome and Brugada syndrome) | – | – |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- patients with hereditary cardiac disease
Key inclusion criteria (1 listed)
- genotype E1784K (glu1784lys) in SCN5A gene
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Occurrence of MCE
Time frame: at inclusion
occurrence of syncop, sudden cardiac death, ventricular arrhythmia, cardiopulmonary arrest collected by a series of medical questions
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 5 Aug 2025.
- Individual participant dataSharing planned: No
Related trials for Long QT Syndrome
Active, not recruitingPhase 1/2
Opt-IVF for Personalized Medicine for Normal Responders
Ivf
RecruitingObservational study
Genetic Markers of Cardiovascular Disease in Epilepsy
Epilepsy, Seizures
Active, not recruitingObservational study
Observational Study to Describe Health-Related Quality of Life and Measure Disease Burden Among Patients With Long QT Syndrome Types (LQTS) 2 and 3
Long QT Syndrome Type 3, Long QT Syndrome 2
Not yet recruitingObservational study
Physical Activity and Functional Capacity in Patients With Congenital Long QT Syndrome
Long QT Syndrome, Channelopathies
Recruiting
Dual Trigger VS HCG Trigger for Final Oocyte Maturation in Normal Responders
ICSI, IVF
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.
Maxime CHURET, MD principal investigator
CHU de La Réunion
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 Long QT Syndrome and Brugada Syndrome, run by Centre Hospitalier Universitaire de la Réunion at 1 site in Reunion.
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 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: finished, as of the sponsor's last update on 5 Aug 2025. 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 Reunion. 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?
Occurrence of MCE (time frame: at inclusion). 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 5 Aug 2025.