Worm Study: Modifier Genes in Sudden Cardiac Death

Brugada Syndrome Clinical Trial

Official title:

Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02014961
• Other study ID #: METC 142060
• Status: Recruiting
• Phase: N/A
• First received: December 9, 2013
• Last updated: May 13, 2015
• Start date: April 2015
• Est. completion date: April 2025

Study information

• Verified date: May 2015
• Source: Maastricht University Medical Center
• Contact: Rachel ter Bekke, M.D.
• Phone: +31433877098
• Email: rachel.ter.bekke[@]mumc.nl
• Is FDA regulated: No
• Health authority: Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 223
• Est. completion date: April 2025
• Est. primary completion date: April 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years and older

Eligibility

Inclusion Criteria (mutation carrier group):

• Age = 18 years.

• Heterozygous or homozygous carriership of SCN5A-delPhe1617.

• Confirmed kinship to the founder population by haplotype analysis using predefined microsatellite markers.

• Written informed consent.

Inclusion Criteria (non-mutation carrier group):

• Age = 18 years.

• Non SCN5A-delPhe1617 genotype.

• Confirmed kinship to the Founder Group by haplotype analysis using predefined microsatellite marker.

• Written informed consent.

Inclusion criteria Spouse Group

• 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.

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

Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Single Blind (Investigator), Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Brugada Syndrome
• Death, Sudden, Cardiac
• Long QT Syndrome
• Long QT Syndrome 3
• Syndrome

Intervention

Procedure:
• Dermal biopsy
Skin biopsy

Behavioral:
• Gastro-intestinal questionnaire
Pagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS)

Genetic:
• Whole-exome sequencing
Whole-exome sequencing (WES)

Locations

Country	Name	City	State
Netherlands	Maastricht University Medical Center	Maastricht	Limburg

Sponsors (2)

Lead Sponsor	Collaborator
Maastricht University Medical Center	Netherlands Heart Foundation

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.		two years	No