Clinical trial

UTHealth Turner Syndrome Research Registry

Name

HSC-MS-15-0120

Description

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 arms

Trial start

2015-08-28

Estimated PCD

2030-01-01

Trial end

2035-01-01

Status

Recruiting

Treatment

Research genetic tests

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

Arms:

Patients with Turner Syndrome, Unaffected controls

Size

200

Primary endpoint

Bicuspid aortic valve and thoracic aortic aneurysm

10 years

Eligibility criteria

Inclusion Criteria: * Diagnosis of Turner Syndrome Exclusion Criteria: * Diagnosis excluding Turner Syndrome

Protocol

{'studyType': 'OBSERVATIONAL', 'patientRegistry': True, 'targetDuration': '10 Years', 'designInfo': {'observationalModel': 'COHORT', 'timePerspective': 'PROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Saliva, blood, and tissue samples'}, 'enrollmentInfo': {'count': 200, 'type': 'ESTIMATED'}}

Updated at

2023-11-28

1 organization

1 product

1 indication

Organization

The University of Texas Health Science Center at Houston

Product

Research genetic tests

Indication

Turner syndrome