Genetic Considerations in Turner Syndrome
This study aims to understand more about Turner syndrome (TS), a genetic condition where a person is missing all or part of an X sex chromosome. People with TS can experience various health issues, and researchers want to learn why some women with TS can have children while others cannot. To do this, they are creating a large database of genetic information from people with TS by performing whole genome sequencing (WGS). This study is observational, meaning it involves collecting information without giving any new treatments. They are looking for people of any age with a TS diagnosis, as well as their biological parents and other relatives. The goal is to gather enough genetic data to better understand the condition and its related health issues. The study's status is currently unclear.
- Study design
- This is an observational study aiming to enroll 500 participants. It involves collecting genetic information without providing any interventions.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- The primary goal of creating the genetic database will be measured at one year.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Turner Syndrome: Genetic Considerations
At a glance
Conditions
NCT07502586
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
National Institutes of Health Clinical Center
Bethesda, Marylandstudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Veronica Gomez-Lobo, M.D. · PRINCIPAL_INVESTIGATOR · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.One year
To create a database which will allow for evaluation of patient with turner syndrome and their family member