Understanding the genetics of heterotaxy and congenital heart defects
Official title: Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Run by Indiana University · NCT02432079 · Data updated 2026-11-12
This study is trying to learn more about the genetics behind heterotaxy syndrome and congenital heart defects by collecting information and samples from affected individuals and their families.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 2000 (estimated) |
| Sponsor | Indiana University Academic / other |
| Locations | 1 site (Indianapolis, Indiana) |
| Status | Recruiting |
| Started | July 2009 |
| Main results expected | December 2030 |
| Study ends | December 2030 |
| Registry record updated | June 22, 2026 |
| Trial ID | NCT02432079 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with heterotaxy syndrome or related congenital heart defects, as well as their family members.
✕Probably not a fit
Patients without heterotaxy or related congenital heart defects, and their family members, are unlikely to benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to gather specimens and data from individuals and their families affected by heterotaxy syndrome and related congenital heart defects. By performing genetic analyses, the study seeks to clarify the molecular genetics underlying these conditions, which are often genetic in nature. The collected medical information will help in understanding the symptoms, disease course, and potential management strategies for affected individuals. Ultimately, this research aims to enhance genetic counseling and contribute to the knowledge of normal and abnormal left-right anatomical development.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic counseling and management strategies for patients with heterotaxy and congenital heart defects.
How similar studies have gone: While the genetic basis of heterotaxy is not extensively studied, similar approaches in understanding congenital heart defects have shown promise in other research.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Indiana University School of Medicine
Indianapolis, Indiana, United States Recruiting
Study contacts
- Principal investigator: Stephanie M. Ware, MD, PhD — Indiana University
- Study coordinator: Sarah K. Murphy, MPH
- Email: bankssk@iu.edu
- Phone: 317-278-3026
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.