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Turner Syndrome: Genetic Considerations

NCT07502586 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-05-13

No results posted yet for this study

Summary

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.

Conditions

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    lead NIH

Principal Investigators

  • Veronica Gomez-Lobo, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
1 Day
Max Age
110 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-03-24
Primary Completion
2027-08-30
Completion
2028-08-31

Countries

  • United States

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07502586 on ClinicalTrials.gov