Turner SyndromeNCT03185702
UTHealth Turner Syndrome Research Registry
An observational study of Turner Syndrome, run by The University of Texas Health Science Center, Houston at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Turner Syndrome
- What is being tested?
- Research genetic tests
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Aug 2015to 1 Jan 2035
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- Child, Adult, Older adult
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.).
Who may be able to join
- Diagnosis of Turner Syndrome
Who cannot join
- Diagnosis excluding Turner Syndrome
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Texas Health Science Center Houston
Houston, Texas, 77030
Jacqueline Jennings, TSRegistry@uth.tmc.edu
713-500-6704
About this study
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
Read the 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.
- Conditions
- Turner Syndrome
- Being tested
- Research genetic tests
- Medical subject headings
- Turner Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Research genetic testsGenetic
DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells
| Study group | Role | What they receive |
|---|---|---|
| Patients with Turner Syndrome | Chromosomal diagnosis and typical features Receives: Genetic: Research genetic tests | |
| Unaffected controls | Normal females and unaffected family members Receives: Genetic: Research genetic tests |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bicuspid aortic valve and thoracic aortic aneurysm
Imaging data
Measured: 10 years
Secondary outcomes (1)
Health-related quality of life
Access to care and guideline-recommended care
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jun 2017
- Study start28 Aug 2015
- Primary completion1 Jan 2030 (estimated)
- Study completion1 Jan 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Turner SyndromeStudies of the same condition, open and under way.
- More trials run by The University of Texas Health Science Center, HoustonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- American Heart Association
- Responsible party
- Principal investigator, Siddharth Prakash, The University of Texas Health Science Center, Houston
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03185702
- Sponsor's protocol ID
- HSC-MS-15-0120
- Status last verified
- Nov 2023
- First submitted
- 9 Jun 2017
- Last updated
- 28 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Study at a glance
From the registry record, last updated by the sponsor on 28 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- UTHealth Turner Syndrome Research Registry
- ClinicalTrials.gov ID
- NCT03185702
- Acronym / sponsor ID
- HSC-MS-15-0120
- Conditions
- Turner Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- The University of Texas Health Science Center, HoustonUniversity, hospital or other
- Collaborators
- American Heart Association
- Study start
- 28 Aug 2015 (actual)
- Primary completion
- 1 Jan 2030 (estimated)
- Study completion
- 1 Jan 2035 (estimated)
- First posted
- 14 Jun 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Turner Syndrome | – | Genetic: Research genetic testsChromosomal diagnosis and typical features |
| Unaffected controls | – | Genetic: Research genetic testsNormal females and unaffected family members |
Who may qualify
- Sex
- Female only
- Age groups
- Child, Adult, Older adult
- 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.).
Key inclusion criteria (1 listed)
- Diagnosis of Turner Syndrome
Key exclusion criteria (1 listed)
- Diagnosis excluding Turner Syndrome
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Research genetic testsDNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells | Genetic | Patients with Turner Syndrome, Unaffected controls |
Primary outcome
Bicuspid aortic valve and thoracic aortic aneurysm
Time frame: 10 years
Imaging data
1 secondary outcome
Health-related quality of life
Time frame: 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Nov 2023.
- Individual participant dataSharing planned: Yes. 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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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Turner Syndrome, run by The University of Texas Health Science Center, Houston at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Siddharth Prakash, MD, PhD (7135007003, Siddharth.K.Prakash@uth.tmc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bicuspid aortic valve and thoracic aortic aneurysm (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Nov 2023; AzTrials last refreshed its copy on 6 Nov 2026.