National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Location status: Recruiting
Recruiting
NCT Number: NCT07502586
Turner Syndrome: Genetic Considerations
Background:
Turner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Many women with TS never have periods and cannot conceive; however, some women have normal ovaries (egg cells). Researchers want to learn more about why some women with TS are fertile and others are not. To do this, they need to be able to compare the genes of many women who have TS.
Objective:
To create a genetic database of people with TS.
Eligibility:
People of any age with TS. Biological parents and other relatives are also needed.
Design:
Participants who agree to join this study will be asked to enroll in a second study; that study is called NIAID Centralized Sequencing Protocol (Protocol No. 17I0122).
Participants will have 1 study visit. They may fill out a survey or do an interview. They will provide blood, saliva, or other tissue samples. Those samples will be used for genetic tests. The visit will take 1 hour.
The information collected in those tests will be collected for use in the database created as part of this study.
Recruiting
Interested in participating?
Request InfoKey information
Conditions
Age range
1 day–110 year
Sex eligibility
All sexes
Study type
Observational
Primary location
About this study
Study Description:
This is a supplemental study which proposes to refer Turner syndrome patients within other NICHD protocols to NIAID protocol 17I0122 for WGS to create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants associated with co-occurring conditions.
Objectives:
- Primary Objective: Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.
- Secondary Objective: Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.
- Tertiary Objectives: Generate and analyze evidence regarding genetic underpinnings and possible variants related to the co-occurring associated conditions in TS, such as von Willebrand Disease, hypertension, anomalies of heart and kidney, and autoimmune conditions.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
- INCLUSION CRITERIA:
- Turner syndrome diagnosis based on karyotype
- Any age
- Biological parent of Turner syndrome patient
- Relatives of Turner syndrome patient
- The subject from protocol 20CH0126 will enroll in this study only when they agree to be referred to the 17I0122 NIAID study. They can withdraw participation in the 17I0122 study if they do not want to have their genetic data in this database
Exclusion criteria
- Diagnosis other than Turner syndrome
Treatment and study plan
Primary outcomes
-
Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.
Time frame: One year
To create a database which will allow for evaluation of patient with turner syndrome and their family member
Secondary outcomes
-
Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.
Time frame: One year
To create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants
Study contacts
Contact information is provided by the study sponsor or research team.
Sponsors and collaborators
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Nih
Registry information
Important dates
- Study start
- 2026
- Primary completion
- 2027
- Study completion
- 2028
- First posted
- Mar 31, 2026
- Registry last updated
- May 13, 2026
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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