Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Recruiting

• Conditions: Congenital Heart Defects; Heterotaxy Syndrome

• Registration Number: NCT02432079
• Lead Sponsor: Indiana University

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.

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2009-07
• Study First Submitted: 2015-04-28
• Study First Submitted QC: 2015-04-30
• Study First Posted: 2015-05-01
• Status Verified: 2024-02
• Last Update Submitted: 2024-02-05
• Last Update Posted: 2024-02-07
• Primary Completion: 2030-12
• Study Completion: 2030-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 2000

Inclusion Criteria

• Subjects with heterotaxy and related congenital heart defects
• Family members of subjects with heterotaxy and related congenital heart defects

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Exclusion Criteria

• Subjects without heterotaxy and related congenital heart defects
• Family members of subjects without heterotaxy and related congenital heart defects

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Indiana University School of Medicine; 🇺🇸 Indianapolis, Indiana, United States