Worm Study: Modifier Genes in Sudden Cardiac Death

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by Maastricht University Medical Center
Sponsor:
Collaborator:
Netherlands Heart Foundation
Information provided by (Responsible Party):
Maastricht University Medical Center
ClinicalTrials.gov Identifier:
NCT02014961
First received: December 9, 2013
Last updated: May 13, 2015
Last verified: May 2015
  Purpose

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


Condition Intervention
Brugada Syndrome
Long QT Syndrome 3
Procedure: Dermal biopsy
Behavioral: Gastro-intestinal questionnaire
Genetic: Whole-exome sequencing

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Single Blind (Investigator)
Primary Purpose: Diagnostic
Official Title: Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death

Resource links provided by NLM:


Further study details as provided by Maastricht University Medical Center:

Primary Outcome Measures:
  • Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers. [ Time Frame: two years ] [ Designated as safety issue: No ]

Estimated Enrollment: 223
Study Start Date: April 2015
Estimated Study Completion Date: April 2025
Estimated Primary Completion Date: April 2025 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Active Comparator: Mutation Carriers
Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire
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)
Placebo Comparator: Non-Mutation Carriers
Whole-exome sequencing (WES) Gastro-intestinal questionnaire
Behavioral: Gastro-intestinal questionnaire
Pagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS)
Genetic: Whole-exome sequencing
Whole-exome sequencing (WES)
Spouse
Whole-exome sequencing (WES) 12-Lead ECG
Genetic: Whole-exome sequencing
Whole-exome sequencing (WES)

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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02014961

Contacts
Contact: Rachel ter Bekke, M.D. +31433877098 rachel.ter.bekke@mumc.nl
Contact: Paul Volders, M.D., Ph.D. +31433877097 p.volders@maastrichtuniversity.nl

Locations
Netherlands
Maastricht University Medical Center Recruiting
Maastricht, Limburg, Netherlands, 6202 AZ
Contact: ter Bekke    +31433877098    rachel.ter.bekke@mumc.nl   
Sponsors and Collaborators
Maastricht University Medical Center
Netherlands Heart Foundation
Investigators
Study Director: Paul Volders, M.D., Ph.D. Maastricht University Medical Centre
  More Information

No publications provided

Responsible Party: Maastricht University Medical Center
ClinicalTrials.gov Identifier: NCT02014961     History of Changes
Other Study ID Numbers: METC 142060
Study First Received: December 9, 2013
Last Updated: May 13, 2015
Health Authority: Netherlands: The Central Committee on Research Involving Human Subjects (CCMO)

Additional relevant MeSH terms:
Long QT Syndrome
Brugada Syndrome
Death, Sudden, Cardiac
Syndrome
Arrhythmias, Cardiac
Cardiovascular Abnormalities
Cardiovascular Diseases
Congenital Abnormalities
Death
Death, Sudden
Disease
Genetic Diseases, Inborn
Heart Arrest
Heart Defects, Congenital
Heart Diseases
Pathologic Processes

ClinicalTrials.gov processed this record on May 26, 2015