Understanding the genetics of heterotaxy and congenital heart defects
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
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 |
|---|---|
| Enrollment | 2000 (estimated) |
| Sex | All |
| Sponsor | Indiana University Academic / other |
| Locations | 1 site (Indianapolis, Indiana) |
| Trial ID | NCT02432079 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with heterotaxy syndrome or related congenital heart defects, as well as their family members.
Not a fit: Patients without heterotaxy or related congenital heart defects, and their family members, are unlikely to benefit from this study.
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 performed: While the genetic basis of heterotaxy is not extensively studied, similar approaches in understanding congenital heart defects have shown promise in other research.
Eligibility criteria
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 this trial is running
Indianapolis, Indiana
- Indiana University School of Medicine — Indianapolis, Indiana, United States (Recruiting)
Study contacts
- Principal investigator: Stephanie M. Ware, MD, PhD — Indiana University
- Study coordinator: Lindsey R. Helvaty, BA, BS
- Email: lhelvaty@iu.edu
- Phone: 317-278-3020
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.