Brugada SyndromeNCT02014961
Worm Study: Modifier Genes in Sudden Cardiac Death
A study testing Dermal biopsy, Gastro-intestinal questionnaire and Whole-exome sequencing in people with Brugada Syndrome and Long QT Syndrome 3, run by Maastricht University Medical Center at 1 site in Netherlands.
Trial summary
Quest for modifier genes associated with ventricular arrhythmias in presence of a cardiac sodium channel gene (SCN5A-delPhe1617) mutation. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Brugada Syndrome, Long QT Syndrome 3
- What is being tested?
- Dermal biopsy, Gastro-intestinal questionnaire and Whole-exome sequencing
- Type of treatment
- Surgery or procedure, Lifestyle or therapy programme
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 223 participants
- Where
- 1 siteNetherlands
- Study dates
- Apr 2015to Apr 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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.
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- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
Netherlands1 site, 1 recruiting
- Recruiting
Maastricht University Medical Center
Maastricht, Limburg, 6202 AZ
ter Bekke, +31433877098, rachel.ter.bekke@mumc.nl
About this study
Official title: Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death
Quest for modifier genes associated with ventricular arrhythmias in presence of a cardiac sodium channel gene (SCN5A-delPhe1617) mutation.
Read the 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
- Brugada Syndrome, Long QT Syndrome 3
- Being tested
- Dermal biopsy, Gastro-intestinal questionnaire, Whole-exome sequencing
- Medical subject headings
- Brugada Syndrome, Long Qt Syndrome 3
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Dermal biopsyProcedure or surgery
Skin biopsy
Gastro-intestinal questionnaireBehavioural
Pagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS)
Whole-exome sequencingGenetic
Whole-exome sequencing (WES)
| Study group | Role | What they receive |
|---|---|---|
| Mutation Carriers | Active comparator | Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire Receives: Procedure: Dermal biopsy; Behavioral: Gastro-intestinal questionnaire; Genetic: Whole-exome sequencing |
| Non-Mutation Carriers | Placebo comparator | Whole-exome sequencing (WES) Gastro-intestinal questionnaire Receives: Behavioral: Gastro-intestinal questionnaire; Genetic: Whole-exome sequencing |
| Spouse | Other | Whole-exome sequencing (WES) 12-Lead ECG Receives: Genetic: Whole-exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.
Measured: two years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Dec 2013 (estimated)
- Study startApr 2015
- Primary completionApr 2025 (estimated)
- Study completionApr 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Brugada SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- Single blind
- Who is masked
- Investigator
- Enrolment
- 223 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Maastricht University Medical Center
- Sponsor type
- University, hospital or other
- Collaborators
- Netherlands Heart Foundation
- Responsible party
- Sponsor
- Investigators
- Paul Volders, M.D., Ph.D., Study director, Maastricht University Medical Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02014961
- Sponsor's protocol ID
- METC 142060
- Status last verified
- May 2015
- First submitted
- 9 Dec 2013
- Last updated
- 14 May 2015
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death
- ClinicalTrials.gov ID
- NCT02014961
- Acronym / sponsor ID
- METC 142060
- Conditions
- Brugada Syndrome, Long QT Syndrome 3
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 223 participants (estimated)
- Lead sponsor
- Maastricht University Medical CenterUniversity, hospital or other
- Collaborators
- Netherlands Heart Foundation
- Study start
- Apr 2015
- Primary completion
- Apr 2025 (estimated)
- Study completion
- Apr 2025 (estimated)
- First posted
- 19 Dec 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- Single blind (investigator)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Mutation Carriers | Active comparator | Procedure: Dermal biopsy, Behavioral: Gastro-intestinal questionnaire, Genetic: Whole-exome sequencingWhole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire |
| Non-Mutation Carriers | Placebo comparator | Behavioral: Gastro-intestinal questionnaire, Genetic: Whole-exome sequencingWhole-exome sequencing (WES) Gastro-intestinal questionnaire |
| Spouse | Other | Genetic: Whole-exome sequencingWhole-exome sequencing (WES) 12-Lead ECG |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (11 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Dermal biopsySkin biopsy | Procedure or surgery | Mutation Carriers |
| Gastro-intestinal questionnairePagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS) | Behavioural | Mutation Carriers, Non-Mutation Carriers |
| Whole-exome sequencingWhole-exome sequencing (WES) | Genetic | Mutation Carriers, Non-Mutation Carriers, Spouse |
Primary outcome
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.
Time frame: two years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 May 2015.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Paul Volders, M.D., Ph.D. study director
Maastricht University Medical Centre
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Dermal biopsy, Gastro-intestinal questionnaire and Whole-exome sequencing in people with Brugada Syndrome and Long QT Syndrome 3, run by Maastricht University Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 14 May 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Rachel ter Bekke, M.D. (+31433877098, rachel.ter.bekke@mumc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers. (time frame: two years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 May 2015.