Evaluating cardiovascular risks in patients with a specific SCN5A mutation

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

This study looks at the heart risks in people aged 12 and older with a specific SCN5A gene mutation to see how it affects those with different heart conditions.

Quick facts

• Study type: Observational
• Enrollment: 64 (estimated)
• Ages: 12 Years and up
• Sex: All
• Sponsor: Centre Hospitalier Universitaire de la Réunion (other)
• Locations: 1 site (Saint-Pierre, France)
• Trial ID: NCT05274646 on ClinicalTrials.gov

What this trial studies

This observational study aims to assess the occurrence of major cardiovascular events (MCE) in patients aged 12 and older who have the E1784K mutation in the SCN5A gene. It will compare patients exhibiting an overlap syndrome phenotype, which includes both Brugada syndrome and Long QT syndrome type 3, against those with a single phenotype. The study will utilize both retrospective and prospective data collection to analyze the risk stratification challenges associated with this mutation. By identifying and comparing these patient groups, the study seeks to improve understanding of cardiovascular risks linked to the E1784K mutation.

Who should consider this trial

Good fit: Ideal candidates for this study are patients aged 12 years and older who have the E1784K mutation in the SCN5A gene.

Not a fit: Patients without the E1784K mutation in the SCN5A gene or those under 12 years of age may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance risk stratification and management strategies for patients with the E1784K mutation, potentially reducing the incidence of major cardiovascular events.

How similar studies have performed: While this study addresses a specific mutation and its associated phenotypes, similar studies have shown that understanding genetic variations can significantly impact risk stratification in cardiac conditions.

Eligibility criteria

Inclusion Criteria:

* genotype E1784K (glu1784lys) in SCN5A gene

Exclusion Criteria:

* none

Where this trial is running

Saint-Pierre, France

• CHU de La Réunion — Saint-Pierre, France, Réunion (RECRUITING)

Study contacts

• Principal investigator: Maxime CHURET, MD — CHU de La Réunion
• Study coordinator: Maxime CHURET, MD

Conditions: Long QT Syndrome, Brugada Syndrome, Cardiac Conduction System Disease, Arrhythmias, Cardiac, Long QT syndrome type 3, SCN5A gene, E1784K mutation, Cardiac arrhythmias