Worm Study: Modifier Genes in Sudden Cardiac Death

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

Status

UNKNOWN

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT02014961

Enrollment

223

Registered

2013-12-19

Start date

2015-04-30

Completion date

2025-04-30

Last updated

2015-05-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Brugada Syndrome, Long QT Syndrome 3

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.

Interventions

PROCEDUREDermal biopsy

Skin biopsy

BEHAVIORALGastro-intestinal questionnaire

Pagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS)

GENETICWhole-exome sequencing

Whole-exome sequencing (WES)

Study design

Allocation

NON_RANDOMIZED

Intervention model

PARALLEL

Primary purpose

DIAGNOSTIC

Masking

SINGLE (Investigator)

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

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.

Design outcomes

Primary

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

Countries

Netherlands

Contacts

Primary ContactRachel ter Bekke, M.D.

rachel.ter.bekke@mumc.nl+31433877098

Backup ContactPaul Volders, M.D., Ph.D.

p.volders@maastrichtuniversity.nl+31433877097

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026