An observational study in Heterotaxy Syndrome and Congenital Heart Defects, sponsored by Indiana University. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-06-22.
Sponsored by Indiana University · Observational
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.
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.
991 studies on the registry are indexed under Heart Defects, Congenital; 251 are open to participants now.
This study's planned enrollment of 2,000 is above the median of 119 across 440 observational studies indexed under Heart Defects, Congenital.
Browse Heart Defects, Congenital studies →Indiana University is the lead sponsor of 986 studies on the registry; 198 are open to participants now.
Of its 148 completed or terminated interventional studies of FDA-regulated products, 118 (80%) have results posted.
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children affected with heterotaxy syndrome and/or congenital heart defects and their relatives
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Exclusion Criteria:
Patients and family members with heterotaxy and related congenital heart defects
Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
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.
Time frame: 8 years
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