Worm Study: Modifier Genes in Sudden Cardiac Death | NCT02014961

Studies
Worm Study: Modifier Genes in Sudden Cardiac Death

NCT02014961

Sponsor

Maastricht University Medical Center

Status

Unknown status

Last Update Posted

May 14, 2015Estimated

Enrollment

223Estimated

Phase

Not Applicable

Conditions

Brugada Syndrome
Long QT Syndrome 3

Interventions

Dermal biopsy
Gastro-intestinal questionnaire
Whole-exome sequencing

Countries

Netherlands

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

May 2015

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 2015

Primary Completion Date

Apr 2025Estimated

Completion Date

Apr 2025Estimated

First Submitted Date

Dec 9, 2013

First Submission Date that Met QC Criteria

Dec 12, 2013

First Posted Date

Dec 19, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 13, 2015

Last Update Posted Date

May 14, 2015Estimated

Name	Class
Netherlands Heart Foundation	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

223Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Mutation Carriers	Active Comparator	Whole-exome sequencing (WES) Dermal biopsy Gastro-intestinal questionnaire	Procedure: Dermal biopsy Behavioral: Gastro-intestinal questionnaire Genetic: Whole-exome sequencing
Non-Mutation Carriers	Placebo Comparator	Whole-exome sequencing (WES) Gastro-intestinal questionnaire	Behavioral: Gastro-intestinal questionnaire Genetic: Whole-exome sequencing
Spouse	Other	Whole-exome sequencing (WES) 12-Lead ECG	Genetic: Whole-exome sequencing

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Dermal biopsy	Procedure	Skin biopsy	Mutation Carriers
Gastro-intestinal questionnaire

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.		two years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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.

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Rachel ter Bekke, M.D.	Contact	+31433877098		rachel.ter.bekke@mumc.nl
Paul Volders, M.D., Ph.D.	Contact	+31433877097		p.volders@maastrichtuniversity.nl

Overall Officials

Name	Affiliation	Role
Paul Volders, M.D., Ph.D.	Maastricht University Medical Centre	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Maastricht University Medical Center	Recruiting	Maastricht	Limburg	6202 AZ	Netherlands

Condition Browse Module

MeSH Terms

ID	Term
D053840	Brugada Syndrome
C565840	Long Qt Syndrome 3

Ancestor Terms

ID	Term
D001145	Arrhythmias, Cardiac
D006331	Heart Diseases
D002318	Cardiovascular Diseases
D000075224	Cardiac Conduction System Disease

Browse Leaves

Not provided

Browse Branches

Not provided

ID	Term
D016678	Genome
D040342	Genetic Structures
D055614	Genetic Phenomena