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UTHealth Turner Syndrome Research Registry

NCT ID: NCT03185702

Last Updated: 2023-11-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-08-28

Study Completion Date

2035-01-01

Brief Summary

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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

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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.

Conditions

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Turner Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with Turner Syndrome

Chromosomal diagnosis and typical features

Research genetic tests

Intervention Type GENETIC

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

Unaffected controls

Normal females and unaffected family members

Research genetic tests

Intervention Type GENETIC

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

Interventions

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Research genetic tests

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

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Diagnosis of Turner Syndrome

Exclusion Criteria

* Diagnosis excluding Turner Syndrome
Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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American Heart Association

OTHER

Sponsor Role collaborator

The University of Texas Health Science Center, Houston

OTHER

Sponsor Role lead

Responsible Party

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Siddharth Prakash

Associate Professor, Internal Medicine

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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University of Texas Health Science Center Houston

Houston, Texas, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Siddharth Prakash, MD, PhD

Role: CONTACT

[email protected]
7135007003

Facility Contacts

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Jacqueline Jennings

Role: primary

[email protected]

Role: backup

713-500-6704

Other Identifiers

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HSC-MS-15-0120

Identifier Type: -

Identifier Source: org_study_id