Trials / Unknown
UnknownNCT02014961
Worm Study: Modifier Genes in Sudden Cardiac Death
Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death
- Status
- Unknown
- Phase
- N/A
- Study type
- Interventional
- Enrollment
- 223 (estimated)
- Sponsor
- Maastricht University Medical Center · Academic / Other
- Sex
- All
- Age
- 18 Years
- Healthy volunteers
- Accepted
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| 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) |
Timeline
- Start date
- 2015-04-01
- Primary completion
- 2025-04-01
- Completion
- 2025-04-01
- First posted
- 2013-12-19
- Last updated
- 2015-05-14
Locations
1 site across 1 country: Netherlands
Source: ClinicalTrials.gov record NCT02014961. Inclusion in this directory is not an endorsement.