Impact on Risk Stratification of Overlap Syndrome Phenotype 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 )

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Key information

Conditions

Long QT Syndrome Arrhythmias, Cardiac Brugada Syndrome Cardiac Conduction System Disease Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Long QT syndrome type 3 Long Qt Syndrome 3 Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

12 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU de La Réunion

Saint-Pierre, France, 97440, Reunion

About this study

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.

Who can participate

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

genotype E1784K (glu1784lys) in SCN5A gene

Exclusion criteria

none

Treatment and study plan

Primary outcomes

Occurrence of MCE

Time frame: at inclusion

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

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de la Réunion

Other

Registry information

Official study title

Impact on Risk Stratification of Overlap Syndrome Phenotype (Brugada and Long QT Type 3) in Patients With E1784K Mutation in SCN5A

Acronym: RISKOVER

Important dates

Study start: 2022
Primary completion: 2024
Study completion: 2024
First posted: Mar 10, 2022
Registry last updated: Aug 5, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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