Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Sponsor

Indiana University (Other)

Overall Status

Recruiting

CT.gov ID

NCT02432079

Collaborator

(none)

2,000

Enrollment

Location

227

Duration (Months)

8.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The goal of this study is to obtain specimens and data from individuals and their families with heterotaxy and related congenital heart defects in order to clarify the molecular genetics of this disorder. The knowledge gained from the analysis of this information will provide the basis for future genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry.

Condition or Disease	Intervention/Treatment	Phase
Heterotaxy Syndrome Congenital Heart Defects

Detailed Description

Heterotaxy syndrome is a rare birth defect that involves the heart and other organs. Many cases are genetic. Fundamental lack of information about the genetic basis of heterotaxy and related congenital heart defects in the vast majority of children has hindered management and therapy. The study outlined in this protocol is designed to obtain information about the causes of heterotaxy and related congenital heart defects. In this study, investigators will perform genetic analyses on patients with heterotaxy and related congenital heart defects, or individuals at risk for these abnormalities. The investigators will collect medical information related to symptoms and disease course. These results will provide important information on the causes, management, and prognosis of heterotaxy and related congenital heart defects.

Study Design

Study Type:

Observational

Anticipated Enrollment :

2000 participants

Observational Model:

Family-Based

Time Perspective:

Prospective

Official Title:

Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Study Start Date :

Jul 1, 2009

Anticipated Primary Completion Date :

Jun 1, 2025

Anticipated Study Completion Date :

Jun 1, 2028

Arms and Interventions

Arm	Intervention/Treatment
Heterotaxy and congenital heart defects Patients and family members with heterotaxy and related congenital heart defects

Outcome Measures

Primary Outcome Measures

Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects [8 years]
These results will provide important information on the causes, management, and prognosis of heterotaxy and related congenital heart defects. This will provide the basis for future genetic testing and genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right asymmetry.