Trial record 18 of 23 for:    "Romano-Ward syndrome" OR "Long QT Syndrome"

Worm Study: Modifier Genes in Sudden Cardiac Death

This study is not yet open for participant recruitment. (see Contacts and Locations)
Verified May 2014 by Maastricht University Medical Center
Sponsor:
Collaborator:
Netherlands Heart Foundation
Information provided by (Responsible Party):
Maastricht University Medical Center
ClinicalTrials.gov Identifier:
NCT02014961
First received: December 9, 2013
Last updated: May 26, 2014
Last verified: May 2014
  Purpose

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.


Condition Intervention
Brugada Syndrome
Long QT Syndrome 3
Procedure: Dermal biopsy
Drug: Ajmaline challenge
Genetic: Whole-exome sequencing

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death

Resource links provided by NLM:


Further study details as provided by Maastricht University Medical Center:

Primary Outcome Measures:
  • Difference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers. [ Time Frame: two years ] [ Designated as safety issue: No ]

Estimated Enrollment: 400
Study Start Date: July 2014
Estimated Primary Completion Date: July 2024 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Mutation Carriers
Ajmaline challenge 1mg/kg in 5 minutes Whole-exome sequencing Dermal biopsy
Procedure: Dermal biopsy Drug: Ajmaline challenge Genetic: Whole-exome sequencing
Non-Mutation Carriers
Whole-exome sequencing
Procedure: Dermal biopsy Genetic: Whole-exome sequencing

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Dutch founder population with SCN5A mutation.

Criteria

Inclusion Criteria (mutation carrier group):

  • Age > 18 years.
  • Confirmed kinship by haplotype analysis using predefined microsatellite markers.
  • Heterozygous or homozygous presence of the SCN5A delPhe1617 mutation.
  • Any SCN5A H588 variant (wild type, H558R-heterozygous or homozygous).
  • Written informed consent.

Inclusion Criteria (non-mutation carrier group):

  • Age > 18 years.
  • Confirmed kinship by haplotype analysis using predefined microsatellite markers.
  • Both parents of a mutation carrier can be included.
  • SCN5A wild type.
  • Any SCN5A H588 variant (wild type, H558R-heterozygous or homozygous).
  • Written informed consent.

Exclusion Criteria:

  • Age < 18 years.
  • Non-SCN5A delPhe1617 mutation or SCN5A wild type.
  • No confirmed kinship to founder population.
  • Inability or declination to give informed consent.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02014961

Contacts
Contact: Rachel M.A. ter Bekke, M.D. +31433877098 rachel.ter.bekke@mumc.nl
Contact: Paul G.A. Volders, M.D., Ph.D. +31433877097 p.volders@maastrichtuniversity.nl

Locations
Netherlands
Maastricht University Medical Center Not yet recruiting
Maastricht, Limburg, Netherlands, 6202 AZ
Contact: ter Bekke    +31433877098    rachel.ter.bekke@mumc.nl   
Sponsors and Collaborators
Maastricht University Medical Center
Netherlands Heart Foundation
Investigators
Study Director: Paul G.A. Volders, M.D., Ph.D. Maastricht University Medical Centre
  More Information

No publications provided

Responsible Party: Maastricht University Medical Center
ClinicalTrials.gov Identifier: NCT02014961     History of Changes
Other Study ID Numbers: METC 13-1-001
Study First Received: December 9, 2013
Last Updated: May 26, 2014
Health Authority: The Netherlands: The Central Committee on Research Involving Human Subjects

Additional relevant MeSH terms:
Long QT Syndrome
Death, Sudden, Cardiac
Death
Brugada Syndrome
Arrhythmias, Cardiac
Heart Diseases
Cardiovascular Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities
Pathologic Processes
Heart Arrest
Death, Sudden
Genetic Diseases, Inborn
Ajmaline
Anti-Arrhythmia Agents
Cardiovascular Agents
Therapeutic Uses
Pharmacologic Actions

ClinicalTrials.gov processed this record on July 20, 2014