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CompletedNCT05274646RISKOVERUpdated Aug 5, 2025

Impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A

An observational study in Long QT Syndrome, Brugada Syndrome and Cardiac Conduction System Disease, sponsored by Centre Hospitalier Universitaire de la Réunion. Completed at 1 site in Reunion. Open to participants aged 12 Years and older. Per ClinicalTrials.gov, last updated 2025-08-05.

Sponsored by Centre Hospitalier Universitaire de la Réunion · Observational

Study type
Observational
Model
Case-only
Time perspective
Other
Enrollment
47
Ages
12 Years and older
Sex
All
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Study 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 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.

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Conditions studied

  • 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
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In context

Long QT Syndrome

95 studies on the registry are indexed under Long QT Syndrome; 20 are open to participants now.

This study's enrollment of 47 is below the median of 150 across 48 observational studies indexed under Long QT Syndrome.

Browse Long QT Syndrome studies →

Lead sponsor

Centre Hospitalier Universitaire de la Réunion is the lead sponsor of 137 studies on the registry; 35 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
12 Years and older
Sexes eligible
All
Sampling method
Non-probability sample

Study population

patients with hereditary cardiac disease

Inclusion criteria

  • genotype E1784K (glu1784lys) in SCN5A gene

Exclusion criteria

Exclusion Criteria:

  • none
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Study design

Observational model
Case-only
Time perspective
Other
Enrollment
47 participants (actual)
Patient registry
No

Groups and cohorts

  • 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)
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What researchers measure

Primary outcomes

  1. Occurrence of MCE

    occurrence of syncop, sudden cardiac death, ventricular arrhythmia, cardiopulmonary arrest collected by a series of medical questions

    Time frame: at inclusion

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Study locations

1 site
  • CHU de La Réunion
    Saint-Pierre, France 97440, Reunion
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References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Aug 5, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT05274646
Lead sponsor
Centre Hospitalier Universitaire de la Réunion
Responsible party
Sponsor
First posted
Mar 10, 2022
Start date
Apr 5, 2022
Primary completion
Mar 20, 2024
Completion
Mar 20, 2024
Last update
Aug 5, 2025

Study contacts

Maxime CHURET, MD
principal investigator · CHU de La Réunion

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2025. You cannot join it, but the record below documents what was studied.

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