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

Sponsor

Centre Hospitalier Universitaire de la Réunion (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05274646

Collaborator

(none)

Enrollment

Location

Anticipated Duration (Months)

2.4

Patients Per Site Per Month

Study Details

Study Description

Brief 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 )

Condition or Disease	Intervention/Treatment	Phase
Long QT Syndrome Brugada Syndrome Cardiac Conduction System Disease Arrhythmias, Cardiac

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

Study Type:

Observational

Anticipated Enrollment :

64 participants

Observational Model:

Case-Only

Time Perspective:

Other

Official Title:

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

Anticipated Study Start Date :

Apr 1, 2022

Anticipated Primary Completion Date :

Aug 1, 2022

Anticipated Study Completion Date :

Jul 1, 2024

Arms and Interventions

Arm	Intervention/Treatment
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)

Outcome Measures

Primary Outcome Measures

Occurrence of MCE [at inclusion]
occurrence of syncop, sudden cardiac death, ventricular arrhythmia, cardiopulmonary arrest collected by a series of medical questions