UTHealth Turner Syndrome Research Registry

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
AgeNot listed
SponsorThe University of Texas Health Science Center, Houston

About this trial

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

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Diagnosis of Turner Syndrome

Disqualifiers

Diagnosis excluding Turner Syndrome

Trial population

The study population consists of females diagnosed with Turner Syndrome. This diagnosis can be based on physical symptoms (e.g. short stature, developmental delay, pubertal delay, etc.) or karyotype (e.g. 45X/46XX mosaic, 45X, etc.).

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Research genetic tests

    Genetic

    DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells

Treatment groups

200 Participants
are divided into 2 treatment groups
Group A: Patients with Turner Syndrome1 intervention
Group B: Unaffected controls1 intervention

Trial outcomes

Primary outcomes

1

Bicuspid aortic valve and thoracic aortic aneurysm

Imaging data

Time frame
10 years

Secondary outcomes

1

Health-related quality of life

Access to care and guideline-recommended care

Time frame
10 years

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.