Worm Study: Modifier Genes in Sudden Cardiac Death

NCT ID: NCT02014961

Last Updated: 2015-05-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

223 participants

Study Classification

INTERVENTIONAL

Study Start Date

2015-04-30

Study Completion Date

2025-04-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Brugada Syndrome Long QT Syndrome 3

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

SINGLE

Investigators

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Mutation Carriers

Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire

Group Type ACTIVE_COMPARATOR

Dermal biopsy

Intervention Type PROCEDURE

Skin biopsy

Gastro-intestinal questionnaire

Intervention Type BEHAVIORAL

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

Whole-exome sequencing

Intervention Type GENETIC

Whole-exome sequencing (WES)

Non-Mutation Carriers

Whole-exome sequencing (WES) Gastro-intestinal questionnaire

Group Type PLACEBO_COMPARATOR

Gastro-intestinal questionnaire

Intervention Type BEHAVIORAL

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

Whole-exome sequencing

Intervention Type GENETIC

Whole-exome sequencing (WES)

Spouse

Whole-exome sequencing (WES) 12-Lead ECG

Group Type OTHER

Whole-exome sequencing

Intervention Type GENETIC

Whole-exome sequencing (WES)

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Dermal biopsy

Skin biopsy

Intervention Type PROCEDURE

Gastro-intestinal questionnaire

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

Intervention Type BEHAVIORAL

Whole-exome sequencing

Whole-exome sequencing (WES)

Intervention Type GENETIC

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* 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.


* Age ≥ 18 years.
* Non SCN5A-delPhe1617 genotype.
* Confirmed kinship to the Founder Group by haplotype analysis using predefined microsatellite marker.
* Written informed consent.


* 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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Netherlands Heart Foundation

OTHER

Sponsor Role collaborator

Maastricht University Medical Center

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

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

Role: STUDY_DIRECTOR

Maastricht University Medical Centre

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Maastricht University Medical Center

Maastricht, Limburg, Netherlands

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

Netherlands

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Rachel ter Bekke, M.D.

Role: CONTACT

+31433877098

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

Role: CONTACT

+31433877097

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

ter Bekke

Role: primary

+31433877098

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

METC 142060

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Genetics of Ventriculo-arterial Discordance
NCT05330338 ACTIVE_NOT_RECRUITING NA
Cardiogenomics Registry
NCT00861575 COMPLETED
Cardiac AResT And GENEtic
NCT00604149 COMPLETED
Framingham Heart Study
NCT00005121 COMPLETED