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

NCT ID: NCT05274646

Last Updated: 2025-08-05

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 47 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-04-05
• Study Completion Date: 2024-03-20

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 )

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

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: OTHER

Study Groups

E1784K (glu1784lys) in SCN5A expressing either Long QT syndrome type 3 or Brugada syndrome

No interventions assigned to this group

E1784K (glu1784lys) in SCN5A expressing both syndromes (Long QT syndrome and Brugada syndrome)

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• genotype E1784K (glu1784lys) in SCN5A gene

Exclusion Criteria

• none

• Minimum Eligible Age: 12 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Centre Hospitalier Universitaire de la Réunion

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Maxime CHURET, MD

Role: PRINCIPAL_INVESTIGATOR

CHU de La Réunion

Locations

CHU de La Réunion

Saint-Pierre, France, Reunion

Countries

Reunion

Other Identifiers

2021/CHU/36

Identifier Type: -

Identifier Source: org_study_id