Worm Study: Modifier Genes in Sudden Cardiac Death
Primary Purpose
Brugada Syndrome, Long QT Syndrome 3
Status
Recruiting
Phase
Not Applicable
Locations
Netherlands
Study Type
Interventional
Intervention
Dermal biopsy
Gastro-intestinal questionnaire
Whole-exome sequencing
Sponsored by
About this trial
This is an interventional diagnostic trial for Brugada Syndrome
Eligibility 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.
Sites / Locations
- Maastricht University Medical CenterRecruiting
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm Type
Active Comparator
Placebo Comparator
Other
Arm Label
Mutation Carriers
Non-Mutation Carriers
Spouse
Arm Description
Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire
Whole-exome sequencing (WES) Gastro-intestinal questionnaire
Whole-exome sequencing (WES) 12-Lead ECG
Outcomes
Primary Outcome Measures
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.
Secondary Outcome Measures
Full Information
NCT ID
NCT02014961
First Posted
December 9, 2013
Last Updated
May 13, 2015
Sponsor
Maastricht University Medical Center
Collaborators
Netherlands Heart Foundation
1. Study Identification
Unique Protocol Identification Number
NCT02014961
Brief Title
Worm Study: Modifier Genes in Sudden Cardiac Death
Official Title
Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death
Study Type
Interventional
2. Study Status
Record Verification Date
May 2015
Overall Recruitment Status
Recruiting
Study Start Date
April 2015 (undefined)
Primary Completion Date
April 2025 (Anticipated)
Study Completion Date
April 2025 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Maastricht University Medical Center
Collaborators
Netherlands Heart Foundation
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Brugada Syndrome, Long QT Syndrome 3
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
Investigator
Allocation
Non-Randomized
Enrollment
223 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Mutation Carriers
Arm Type
Active Comparator
Arm Description
Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire
Arm Title
Non-Mutation Carriers
Arm Type
Placebo Comparator
Arm Description
Whole-exome sequencing (WES) Gastro-intestinal questionnaire
Arm Title
Spouse
Arm Type
Other
Arm Description
Whole-exome sequencing (WES) 12-Lead ECG
Intervention Type
Procedure
Intervention Name(s)
Dermal biopsy
Intervention Description
Skin biopsy
Intervention Type
Behavioral
Intervention Name(s)
Gastro-intestinal questionnaire
Intervention Description
Pagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS)
Intervention Type
Genetic
Intervention Name(s)
Whole-exome sequencing
Intervention Description
Whole-exome sequencing (WES)
Primary Outcome Measure Information:
Title
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.
Time Frame
two years
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility 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.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Rachel ter Bekke, M.D.
Phone
+31433877098
Email
rachel.ter.bekke@mumc.nl
First Name & Middle Initial & Last Name or Official Title & Degree
Paul Volders, M.D., Ph.D.
Phone
+31433877097
Email
p.volders@maastrichtuniversity.nl
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Paul Volders, M.D., Ph.D.
Organizational Affiliation
Maastricht University Medical Centre
Official's Role
Study Director
Facility Information:
Facility Name
Maastricht University Medical Center
City
Maastricht
State/Province
Limburg
ZIP/Postal Code
6202 AZ
Country
Netherlands
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
ter Bekke
Phone
+31433877098
Email
rachel.ter.bekke@mumc.nl
12. IPD Sharing Statement
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Worm Study: Modifier Genes in Sudden Cardiac Death
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