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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

About this trial

This is an interventional diagnostic trial for Brugada Syndrome

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

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

rachel.ter.bekke@mumc.nl

First Name & Middle Initial & Last Name or Official Title & Degree

Paul Volders, M.D., Ph.D.

Phone

+31433877097

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

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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