UTHealth Turner Syndrome Research Registry
1 other identifier
observational
200
1 country
1
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
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Aug 2015
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
August 28, 2015
CompletedFirst Submitted
Initial submission to the registry
June 9, 2017
CompletedFirst Posted
Study publicly available on registry
June 14, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
January 1, 2035
November 28, 2023
November 1, 2023
14.4 years
June 9, 2017
November 27, 2023
Conditions
Outcome Measures
Primary Outcomes (1)
Bicuspid aortic valve and thoracic aortic aneurysm
Imaging data
10 years
Secondary Outcomes (1)
Health-related quality of life
10 years
Study Arms (2)
Patients with Turner Syndrome
Chromosomal diagnosis and typical features
Unaffected controls
Normal females and unaffected family members
Interventions
DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells
Eligibility Criteria
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.).
You may qualify if:
- Diagnosis of Turner Syndrome
You may not qualify if:
- Diagnosis excluding Turner Syndrome
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
University of Texas Health Science Center Houston
Houston, Texas, 77030, United States
Biospecimen
Saliva, blood, and tissue samples
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 10 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Associate Professor, Internal Medicine
Study Record Dates
First Submitted
June 9, 2017
First Posted
June 14, 2017
Study Start
August 28, 2015
Primary Completion (Estimated)
January 1, 2030
Study Completion (Estimated)
January 1, 2035
Last Updated
November 28, 2023
Record last verified: 2023-11
Data Sharing
- IPD Sharing
- Will share
De-identified genetic and clinical IPD data will be shared with approved researchers with local IRB approval after authorization from the UTHouston study team. Aggregate data will be made available to the general research community through NIH databases.