Worm Study: Modifier Genes in Sudden Cardiac Death

Maastricht University Medical Centre (MUMC)

Status: Enrolling

Conditions: Long QT Syndrome 3; Brugada Syndrome

Treatments: Behavioral: Gastro-intestinal questionnaire; Procedure: Dermal biopsy; Genetic: Whole-exome sequencing

Study type: Interventional

Funder types: Other

Identifiers

NCT02014961

METC 142060

Details and patient eligibility

About

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

Full 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.

Enrollment: 223 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

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.

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: Single Blind

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223 participants in 3 patient groups, including a placebo group

Mutation Carriers

Active Comparator group

Description:

Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire

Treatment:

Behavioral: Gastro-intestinal questionnaire

Genetic: Whole-exome sequencing

Procedure: Dermal biopsy

Non-Mutation Carriers

Placebo Comparator group

Description:

Whole-exome sequencing (WES) Gastro-intestinal questionnaire

Treatment:

Behavioral: Gastro-intestinal questionnaire

Genetic: Whole-exome sequencing

Spouse

Other group

Description:

Whole-exome sequencing (WES) 12-Lead ECG

Treatment:

Genetic: Whole-exome sequencing