Building a genetic database of people with Turner syndrome and their relatives
Collects genetic samples from people with Turner syndrome and relatives to compare their genes.
Key facts
- Who runs it
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Where
- Bethesda, United StatesSee the site
- Trial code
- Registry title
- Turner Syndrome: Genetic Considerations
- Status
- Recruiting
- People taking part
- 500 people, planned
- Started
- 24 Mar 2026
- Expected to end
- 31 Aug 2028
- Type of study
- Observational, 2 groups
- Record updated
- 2 October 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with Turner syndrome, and their biological parents and other relatives, to build a genetic database.
- Age
- From 1 Day to 110 Years.
- Sex
- All sexes can join.
- Disease stage
- Turner syndrome confirmed by a karyotype (a chromosome test). Family members do not need to have it.
- Biomarker or test result
- Turner syndrome diagnosis based on karyotype, for patients.
Main reasons for not taking part
- A diagnosis other than Turner syndrome.
- People from protocol 20CH0126 who do not agree to be referred to the 17I0122 NIAID study.
The registry criteria, word for word
Show all 2 criteriaShow less
Who cannot take part
- Diagnosis other than Turner syndrome
Other criteria
- 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
Where in United States
- National Institutes of Health Clinical CenterBethesda, United StatesContact: NIH Clinical Center Office of Patient Recruitment (OPR)Taking people
About the trial
What the trial wants to find out
Background:
Read full original descriptionShow less
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 currently enrolled, or interested in enrolling in protocol 20-CH-0126. 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.
The 2 groups in the trial
- Patient
Turner Syndrome
- Family member
Family member of patient with Turner Syndrome
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Turner Syndrome: Genetic Considerations
- Plain-language title
- Building a genetic database of people with Turner syndrome and their relativesGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 14 November 2026.
- Record updated
- 2 October 2026