UTHealth Turner Syndrome Research Registry

Turner Syndrome Clinical Trial

Official title:

UTHealth Turner Syndrome Research Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03185702
• Other study ID #: HSC-MS-15-0120
• Status: Recruiting
• Start date: August 28, 2015
• Est. completion date: January 1, 2035

Study information

• Verified date: November 2023
• Source: The University of Texas Health Science Center, Houston
• Contact: Siddharth Prakash, MD, PhD
• Phone: 7135007003
• Email: Siddharth.K.Prakash[@]uth.tmc.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: January 1, 2035
• Est. primary completion date: January 1, 2030
• Gender: Female
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosis of Turner Syndrome

Exclusion Criteria:

• Diagnosis excluding Turner Syndrome

Related Conditions & MeSH terms

• Gonadal Dysgenesis
• Syndrome
• Turner Syndrome

Intervention

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

Locations

Country	Name	City	State
United States	University of Texas Health Science Center Houston	Houston	Texas

Sponsors (2)

Lead Sponsor	Collaborator
The University of Texas Health Science Center, Houston	American Heart Association

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Bicuspid aortic valve and thoracic aortic aneurysm	Imaging data	10 years
Secondary	Health-related quality of life	Access to care and guideline-recommended care	10 years