UTHealth Turner Syndrome Research Registry

Status Recruiting

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

Clinical Trial 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 Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT03185702
Study type	Observational [Patient Registry]
Source	The University of Texas Health Science Center, Houston
Contact	Siddharth Prakash, MD, PhD
Phone	7135007003
Email	Siddharth.K.Prakash@uth.tmc.edu
Status	Recruiting
Phase
Start date	August 28, 2015
Completion date	January 1, 2035

View Details

See also
Status	Clinical Trial	Phase
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Completed	`NCT01419249` - First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study	Phase 4
Completed	`NCT01518036` - Use of Somatropin in Turner Syndrome	Phase 3
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Completed	`NCT01563926` - Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency	Phase 3
Completed	`NCT02787486` - Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
Completed	`NCT00877942` - Sex Differences in Early Brain Development; Brain Development in Turner Syndrome	N/A
Completed	`NCT00825617` - Quantitative Liver Functions in Turner Syndrome With and Without Hormone Replacement Therapy	N/A
Recruiting	`NCT04463316` - GROWing Up With Rare GENEtic Syndromes
Enrolling by invitation	`NCT03836300` - Parent and Infant Inter(X)Action Intervention (PIXI)	N/A
Completed	`NCT01245374` - Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents	Phase 4
Completed	`NCT01322165` - National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions	N/A
Terminated	`NCT00419107` - Beta Cell Function in Women With Turner Syndrome	N/A
Active, not recruiting	`NCT00625001` - Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome	N/A
Completed	`NCT00029159` - The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome	Phase 3
Completed	`NCT01518062` - Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome	Phase 4
Completed	`NCT00471731` - Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure	N/A
Completed	`NCT00256126` - Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®	Phase 4
Completed	`NCT03181230` - Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.