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NCT Number: NCT02432079

Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

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.

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Key information

Conditions

Heterotaxy Syndrome Abnormalities, Multiple Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital Heart Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dextrocardia Heart Defects, Congenital Heart Diseases Hemic and Lymphatic Diseases Lymphatic Diseases Situs Inversus Splenic Diseases Volvulus Of Midgut

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

    Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Sarah K. Murphy, MPH

CONTACT

[email protected]

317-278-3026

Stephanie M. Ware, MD, PhD

CONTACT

[email protected]

317-278-2807

Sponsors and collaborators

Lead sponsor

Indiana University

Other

Registry information

Important dates

Study start
2009
Primary completion
2030
Study completion
2030
First posted
May 1, 2015
Registry last updated
Jun 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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