Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Last updated: June 23, 2025
Sponsor: Indiana University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Pentalogy Of Cantrell

Treatment

N/A

Clinical Study ID

NCT02432079
1403871897
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Subjects with heterotaxy and related congenital heart defects

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

Exclusion

Exclusion Criteria:

  • Subjects without heterotaxy and related congenital heart defects

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

Study Design

Total Participants: 2000
Study Start date:
July 01, 2009
Estimated Completion Date:
December 31, 2030

Study 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.

Connect with a study center

  • Indiana University School of Medicine

    Indianapolis, Indiana 46202
    United States

    Active - Recruiting

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