Genetics of Congenital Heart Disease

Part of paid clinical trials in Columbus, Ohio.

Sponsor
Nationwide Children's Hospital
Study ID
NCT01192048
Status
Recruiting
Apply to this trial

Conditions

  • Congenital Heart Disease

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Accepted

Interventions

  • Blood Sample Collection — OTHER
    Blood sample collection for direct sequencing, microarray, single nucleotide polymorphism, whole-genome array comparative genomic hybridization DNA analyses, and/or whole exome or genome sequencing.

Study Details

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.

Key Dates

Start date
Dec 31, 2009
Status verified
Apr 2026
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
5,000 participants (estimated)

Arms

  • Arm: Study Subjects
    Individuals with Congenital Heart Disease and family members with or without Congenital Heart Disease. A blood sample collection will be required for all study participants.

Primary Outcome Measure

Identification of novel genetic contributors to congenital heart defects [ Time Frame: up to 3 years, from date of genetic analysis to completion of genetic data analysis or identification of novel genetic contributors, whichever comes first ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Nationwide Children's HospitalColumbusOhio43205
Vidu Garg, MD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Columbus, OH

By research site
Nationwide Children's Hospital· Columbus, OH

Related Studies