Actively Recruiting
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Led by Indiana University · Updated on 2025-06-26
2000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying heterotaxy syndrome and related congenital heart defects to better understand the genetic causes of these rare birth defects. The study aims to clarify the molecular genetics behind these conditions, which affect the heart and other organs, and to improve knowledge about the biology of normal and abnormal development of left-right anatomical asymmetry. This research will help provide a foundation for future genetic counseling and enhance understanding of disease management and prognosis. Participants include individuals diagnosed with heterotaxy and related congenital heart defects, as well as their family members who may be at risk. The study involves collecting specimens and detailed medical information related to symptoms and disease progression. Genetic analyses will be performed to identify factors contributing to these disorders. Throughout the study, researchers will gather and analyze genetic and clinical data from participants and their families. The primary outcome is to clarify the molecular genetics of heterotaxy and related heart defects over an 8-year period. This observational study requires no intervention but involves data collection and monitoring to advance scientific knowledge of these complex conditions.
CONDITIONS
Brief Title
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Subjects with heterotaxy and related congenital heart defects
- Family members of subjects with heterotaxy and related congenital heart defects
You will not qualify if you...
- Subjects without heterotaxy and related congenital heart defects
- Family members of subjects without heterotaxy and related congenital heart defects
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 8 years
Participants provide genetic samples and medical information related to heterotaxy and related congenital heart defects.
Visits as needed for sample collection and medical information gathering
Duration - Up to 8 years
Participants are observed over time to clarify the molecular genetics and disease course of heterotaxy and related congenital heart defects.
Periodic visits depending on individual medical needs
Trial Site Locations
Total: 1 location
1
Indiana University School of Medicine
Indianapolis, Indiana, United States, 46202
Actively Recruiting
Research Team
L
Lindsey R. Helvaty, BA, BS
S
Stephanie M. Ware, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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