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UTHealth Turner Syndrome Research Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03185702
Recruitment Status : Recruiting
First Posted : June 14, 2017
Last Update Posted : November 6, 2020
American Heart Association
Information provided by (Responsible Party):
Siddharth Prakash, The University of Texas Health Science Center, Houston

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

Condition or disease Intervention/treatment
Turner Syndrome Genetic: Research genetic tests

Detailed 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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: UTHealth Turner Syndrome Research Registry
Actual Study Start Date : August 28, 2015
Estimated Primary Completion Date : January 1, 2025
Estimated Study Completion Date : January 1, 2030

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Turner Syndrome

Group/Cohort Intervention/treatment
Patients with Turner Syndrome
Chromosomal diagnosis and typical features
Genetic: Research genetic tests
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
Genetic: Research genetic tests
DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells

Primary Outcome Measures :
  1. Bicuspid aortic valve and thoracic aortic aneurysm [ Time Frame: 10 years ]
    Imaging data

Secondary Outcome Measures :
  1. Health-related quality of life [ Time Frame: 10 years ]
    Access to care and guideline-recommended care

Biospecimen Retention:   Samples With DNA
Saliva, blood, and tissue samples

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   Female
Sampling Method:   Probability Sample
Study 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.).

Inclusion Criteria:

  • Diagnosis of Turner Syndrome

Exclusion Criteria:

  • Diagnosis excluding Turner Syndrome

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03185702

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Contact: Siddharth Prakash, MD, PhD 7135007003

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United States, Texas
University of Texas Health Science Center Houston Recruiting
Houston, Texas, United States, 77030
Contact: Jacqueline Jennings   
Contact    713-500-6704      
Sub-Investigator: Siddharth Prakash, MD, PhD         
Principal Investigator: Michelle Rivera-Davila, MD         
Sponsors and Collaborators
The University of Texas Health Science Center, Houston
American Heart Association
Additional Information:

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Responsible Party: Siddharth Prakash, Associate Professor, Internal Medicine, The University of Texas Health Science Center, Houston Identifier: NCT03185702    
Other Study ID Numbers: HSC-MS-15-0120
First Posted: June 14, 2017    Key Record Dates
Last Update Posted: November 6, 2020
Last Verified: November 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: 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.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Turner Syndrome
Gonadal Dysgenesis
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases