Worm Study: Modifier Genes in Sudden Cardiac Death
Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death
1 other identifier
interventional
223
1 country
1
Brief Summary
Quest for modifier genes associated with ventricular arrhythmias in presence of a cardiac sodium channel gene (SCN5A-delPhe1617) mutation.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started Apr 2015
Longer than P75 for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
December 9, 2013
CompletedFirst Posted
Study publicly available on registry
December 19, 2013
CompletedStudy Start
First participant enrolled
April 1, 2015
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 1, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
April 1, 2025
CompletedMay 14, 2015
May 1, 2015
10 years
December 9, 2013
May 13, 2015
Conditions
Outcome Measures
Primary Outcomes (1)
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.
two years
Study Arms (3)
Mutation Carriers
ACTIVE COMPARATORWhole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire
Non-Mutation Carriers
PLACEBO COMPARATORWhole-exome sequencing (WES) Gastro-intestinal questionnaire
Spouse
OTHERWhole-exome sequencing (WES) 12-Lead ECG
Interventions
Pagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS)
Whole-exome sequencing (WES)
Eligibility Criteria
You may qualify if:
- 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.
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Maastricht University Medical Centerlead
- Netherlands Heart Foundationcollaborator
Study Sites (1)
Maastricht University Medical Center
Maastricht, Limburg, 6202 AZ, Netherlands
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Paul Volders, M.D., Ph.D.
Maastricht University Medical Centre
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NON RANDOMIZED
- Masking
- SINGLE
- Who Masked
- INVESTIGATOR
- Purpose
- DIAGNOSTIC
- Intervention Model
- PARALLEL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
December 9, 2013
First Posted
December 19, 2013
Study Start
April 1, 2015
Primary Completion
April 1, 2025
Study Completion
April 1, 2025
Last Updated
May 14, 2015
Record last verified: 2015-05