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

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DE LA RÉUNION · Mar 2, 2022

Keywords

ClinConnect Summary

This clinical trial, called RISKOVER, is studying the health risks in patients who have a specific genetic mutation known as E1784K in the SCN5A gene. This mutation is linked to conditions that affect the heart's rhythm, like Long QT Syndrome and Brugada Syndrome. Researchers want to find out how often serious heart problems occur in patients who show signs of both conditions (referred to as "overlap syndrome") compared to those who only have one of the conditions. Understanding these risks better can help doctors make more informed decisions about patient care.

If you or a family member has the E1784K mutation in the SCN5A gene, you may be eligible to participate in this trial, which is open to all ages and genders. There are no specific exclusions, so if you meet the genetic criteria, you could take part. Participants can expect to be part of a study that could provide valuable insights into their health risks, contributing to improved understanding and treatment of heart-related conditions. Your involvement could help shape future approaches to managing these complex heart issues.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • genotype E1784K (glu1784lys) in SCN5A gene
• Exclusion Criteria:
• • none