UTHealth Turner Syndrome Research Registry

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

Study Overview

• Status: Recruiting
• Conditions: Turner Syndrome
• Intervention / Treatment: 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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Siddharth Prakash, MD, PhD; Phone Number: 7135007003; Email: Siddharth.K.Prakash@uth.tmc.edu

Study Locations

• United States
  • Texas
    • Houston, Texas, United States, 77030
      • Recruiting
      • University of Texas Health Science Center Houston
      • Contact: Jacqueline Jennings; Email: TSRegistry@uth.tmc.edu
      • Contact: Phone Number: 713-500-6704
      • Sub-Investigator: Siddharth Prakash, MD, PhD
      • Principal Investigator: Michelle Rivera-Davila, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• 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.).

Description

Inclusion Criteria:

• Diagnosis of Turner Syndrome

Exclusion Criteria:

• Diagnosis excluding Turner Syndrome

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Bicuspid aortic valve and thoracic aortic aneurysm	Imaging data	10 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Health-related quality of life	Access to care and guideline-recommended care	10 years

Collaborators and Investigators

• Sponsor: The University of Texas Health Science Center, Houston
• Collaborators: American Heart Association

Study record dates

Study Major Dates

• Study Start (Actual): August 28, 2015
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2035

Study Registration Dates

• First Submitted: June 9, 2017
• First Submitted That Met QC Criteria: June 9, 2017
• First Posted (Actual): June 14, 2017

Study Record Updates

• Last Update Posted (Actual): November 28, 2023
• Last Update Submitted That Met QC Criteria: November 27, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Endocrine System Diseases; Disease; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Chromosome Disorders; Sex Chromosome Disorders; Sex Chromosome Disorders of Sex Development; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Syndrome; Turner Syndrome; Gonadal Dysgenesis
• Other Study ID Numbers: HSC-MS-15-0120

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD 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.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No