UTHealth Turner Syndrome Research Registry

Recruiting

• Conditions: Turner Syndrome
• Interventions: Genetic: Research genetic tests

• Registration Number: NCT03185702
• Lead Sponsor: The University of Texas Health Science Center, Houston

Brief Summary

The investigators will conduct genetic comparisons between Turner Syndrome (TS) patients with and without Bicuspid Aortic Valve (BAV) to identify causative agents of BAV in people with TS.

The investigators will correlate the patterns and prevalence of structural heart defects in TS women with emerging molecular data to identify patients who are at high risk for cardiovascular complications

Detailed Description

Turner syndrome (TS) is a common chromosomal disorder that affects approximately 1 in 2500 live female births. Complete or partial monosomy of one of the X chromosomes in a female is associated with various congenital heart defects (CHDs), which include aortic dilatation, coarctation of aorta and BAV. Congenital cardiovascular defects related to CHD are the leading cause of death in women with TS. The Turner Syndrome Network Registry (TRN Registry) and genetic sample repository can address gaps in knowledge of CHD in TS by facilitating the recognition of demographic and genetic patterns. TRN Registry-based research can improve surveillance of TS patients who are at risk for CHD and provide valuable insight into genetic components of CHD.

The investigators will recruit TS patients into the TRN Registry and obtain blood and/or saliva samples after informed consent. The genetic diagnosis of TS will be confirmed using chromosomal microarrays. The array data will be also be used to identify genomic copy number variants, and rare variants in protein coding genes will be determined by exome sequencing. The investigators will derive induced pluripotent stem cells from some participants to determine why CHD is so prevalent in TS. CHD risk genes will be identified in comparisons between TS cases with and without congenital heart defects. To facilitate these comparisons, the investigators will abstract the demographic and medical data of registry participants from questionnaires and medical records. Imaging will be used to confirm the diagnosis of CHD and to determine the prevalence and severity of additional cardiovascular defects.

Study Timeline

• Study Start: 2015-08-28
• Study First Submitted: 2017-06-09
• Study First Submitted QC: 2017-06-09
• Study First Posted: 2017-06-14
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-27
• Last Update Posted: 2023-11-28
• Primary Completion: 2030-01-01
• Study Completion: 2035-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 200

Inclusion Criteria

• Diagnosis of Turner Syndrome

Exclusion Criteria

• Diagnosis excluding Turner Syndrome

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with Turner Syndrome	Research genetic tests	Chromosomal diagnosis and typical features
Unaffected controls	Research genetic tests	Normal females and unaffected family members

Primary Outcome Measures

Name	Time	Method
Bicuspid aortic valve and thoracic aortic aneurysm	10 years	Imaging data

Secondary Outcome Measures

Name	Time	Method
Health-related quality of life	10 years	Access to care and guideline-recommended care

Trial Locations

Locations (1)

University of Texas Health Science Center Houston; 🇺🇸 Houston, Texas, United States