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Worm Study: Modifier Genes in Sudden Cardiac Death

Maastricht University Medical Centre (MUMC) logo

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

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

Trial contacts and locations

1

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Central trial contact

Paul Volders, M.D., Ph.D.; Rachel ter Bekke, M.D.

Data sourced from clinicaltrials.gov

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