RECRUITING

Genetics of Congenital Heart Disease

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown. Numerous epidemiologic studies have demonstrated evidence that genetic factors likely play a contributory, if not causative, role in CHD. While numerous genes have been identified by us and other investigators using traditional genetic approaches, these genes account for a minority of the non-syndromic CHDs. Therefore, we are now utilizing whole genome sequencing (WGS), with the addition of more traditional genetic techniques such as chromosomal microarray or traditional linkage analysis, to identify genetic causes of familial and isolated CHD. With WGS we are able to sequence all of the genetic material of an individual and apply different data analysis techniques based on whether we are analyzing a multiplex family or a cohort of trios (mother, father and child with CHD) with a specific isolated CHD. Therefore, WGS is a robust method for identification of novel genetic causes of CHD which will have important diagnostic and therapeutic consequences for these children.

Official Title

Genetic Testing of Individuals and Families with Congenital Heart Disease

Quick Facts

Study Start:2009-12
Study Completion:2025-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01192048

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Subjects must have a diagnosis of Congenital Heart Disease or be related to individuals with Congenital Heart Disease.
  1. * Healthy individuals unrelated to those with Congenital Heart Disease

Contacts and Locations

Study Contact

Katherine M Spayde, MS, CGC
CONTACT
614-355-6388
katherine.spayde@nationwidechildrens.org

Principal Investigator

Vidu Garg, MD
PRINCIPAL_INVESTIGATOR
The Research Institute at Nationwide Children's Hospital

Study Locations (Sites)

Nationwide Children's Hospital
Columbus, Ohio, 43205
United States

Collaborators and Investigators

Sponsor: Nationwide Children's Hospital

  • Vidu Garg, MD, PRINCIPAL_INVESTIGATOR, The Research Institute at Nationwide Children's Hospital

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2009-12
Study Completion Date2025-12

Study Record Updates

Study Start Date2009-12
Study Completion Date2025-12

Terms related to this study

Keywords Provided by Researchers

  • Congenital Heart Disease
  • birth defect
  • genetics
  • gene
  • DNA
  • direct sequencing
  • microarray
  • single nucleotide polymorphism
  • whole genome array comparative genomic hybridization
  • chromosomal copy number change
  • nucleotide sequence variation
  • exome sequencing
  • whole exome sequencing
  • whole genome sequencing

Additional Relevant MeSH Terms

  • Congenital Heart Disease