Worm Study: Modifier Genes in Sudden Cardiac Death

Not Applicable

Recruiting

• Conditions: Brugada Syndrome; Long QT Syndrome 3
• Interventions: Procedure: Dermal biopsy; Behavioral: Gastro-intestinal questionnaire; Genetic: Whole-exome sequencing

• Registration Number: NCT02014961
• Lead Sponsor: Maastricht University Medical Center

Brief Summary

Quest for modifier genes associated with ventricular arrhythmias in presence of a cardiac sodium channel gene (SCN5A-delPhe1617) mutation.

Detailed Description

In a large Dutch SCN5A founder population with malignant ventricular arrhythmias, the investigators aim to identify genetic modifiers by means of whole-exome sequencing and to establish a comprehensive genotype-phenotype correlation, focussing on clinical and cellular electrophysiological characteristics and neurocardiac modulation.

Study Timeline

• Study First Submitted: 2013-12-09
• Study First Submitted QC: 2013-12-12
• Study First Posted: 2013-12-19
• Study Start: 2015-04
• Status Verified: 2015-05
• Last Update Submitted: 2015-05-13
• Last Update Posted: 2015-05-14
• Primary Completion: 2025-04
• Study Completion: 2025-04

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 223

Inclusion Criteria

Not provided

Exclusion Criteria

• Age ≥ 18 years.
• Biological parent of SCN5A-delPhe1617 positive subject participating to the Worm Study, and not belonging to study group 1 or 2.
• Written informed consent.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Mutation Carriers	Dermal biopsy	Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire
Mutation Carriers	Gastro-intestinal questionnaire	Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire
Non-Mutation Carriers	Whole-exome sequencing	Whole-exome sequencing (WES) Gastro-intestinal questionnaire
Spouse	Whole-exome sequencing	Whole-exome sequencing (WES) 12-Lead ECG
Mutation Carriers	Whole-exome sequencing	Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire
Non-Mutation Carriers	Gastro-intestinal questionnaire	Whole-exome sequencing (WES) Gastro-intestinal questionnaire

Primary Outcome Measures

Name	Time	Method
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.	two years

Trial Locations

Locations (1)

Maastricht University Medical Center; 🇳🇱 Maastricht, Limburg, Netherlands