Research on genetic factors in Turner Syndrome and heart defects
UTHealth Turner Syndrome Research Registry
This study is testing the genetic differences between women with Turner Syndrome who have a specific heart defect and those who don’t, to better understand heart risks for these patients.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | Female |
| Sponsor | The University of Texas Health Science Center, Houston Academic / other |
| Locations | 1 site (Houston, Texas) |
| Trial ID | NCT03185702 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the genetic differences between women with Turner Syndrome who have Bicuspid Aortic Valve and those who do not. By analyzing genetic samples and medical histories from participants, the researchers will identify patterns and prevalence of congenital heart defects associated with Turner Syndrome. The study will utilize chromosomal microarrays and exome sequencing to uncover genetic variants linked to cardiovascular complications. The findings could enhance the understanding of heart defect risks in Turner Syndrome patients and improve their clinical management.
Who should consider this trial
Good fit: Ideal candidates for this study are women diagnosed with Turner Syndrome.
Not a fit: Patients who do not have Turner Syndrome will not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to better risk assessment and management strategies for cardiovascular complications in women with Turner Syndrome.
How similar studies have performed: Other studies have shown success in identifying genetic factors related to congenital heart defects, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of Turner Syndrome Exclusion Criteria: * Diagnosis excluding Turner Syndrome
Where this trial is running
Houston, Texas
- University of Texas Health Science Center Houston — Houston, Texas, United States (Recruiting)
Study contacts
- Study coordinator: Siddharth Prakash, MD, PhD
- Email: Siddharth.K.Prakash@uth.tmc.edu
- Phone: 7135007003
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.