NCT05274646

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 )

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
47

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Apr 2022

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 2, 2022

Completed
8 days until next milestone

First Posted

Study publicly available on registry

March 10, 2022

Completed
26 days until next milestone

Study Start

First participant enrolled

April 5, 2022

Completed
2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 20, 2024

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 20, 2024

Completed
Last Updated

August 5, 2025

Status Verified

July 1, 2025

Enrollment Period

2 years

First QC Date

March 2, 2022

Last Update Submit

July 31, 2025

Conditions

Long QT SyndromeBrugada SyndromeCardiac Conduction System DiseaseArrhythmias, Cardiac

Keywords

Long QT syndrome type 3Brugada SyndromeSCN5A geneE1784K mutationCardiac arrhythmiasCardiac conduction system diseasephenotypic overlapoverlap syndromesodium channelopathie

Outcome Measures

Primary Outcomes (1)

  • Occurrence of MCE

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

    at inclusion

Study Arms (2)

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)

Eligibility Criteria

Age12 Years+
Sexall
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

patients with hereditary cardiac disease

You may qualify if:

  • genotype E1784K (glu1784lys) in SCN5A gene

You may not qualify if:

  • none

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHU de La Réunion

Saint-Pierre, France, 97440, Reunion

Location

MeSH Terms

Conditions

Long QT SyndromeBrugada SyndromeCardiac Conduction System DiseaseArrhythmias, CardiacLong QT syndrome type 3Long Qt Syndrome 3

Condition Hierarchy (Ancestors)

Heart DiseasesCardiovascular DiseasesHeart Defects, CongenitalCardiovascular AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathologic ProcessesPathological Conditions, Signs and SymptomsGenetic Diseases, Inborn

Study Officials

  • Maxime CHURET, MD

    CHU de La Réunion

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 2, 2022

First Posted

March 10, 2022

Study Start

April 5, 2022

Primary Completion

March 20, 2024

Study Completion

March 20, 2024

Last Updated

August 5, 2025

Record last verified: 2025-07

Data Sharing

IPD Sharing
Will not share

Locations

RE(1)