Recruiting

Genetic Database

Sponsor:

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

Code:

NCT07502586

Conditions

Genetic

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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 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.

Conditions

Genetic

Study ID

NCT07502586

Start date

Mar 24, 2026

Status verified date

Aug 4, 2026

Completion date

Aug 31, 2028

Anticipated

Primary completion date

Aug 30, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • INCLUSION CRITERIA:

1. Turner syndrome diagnosis based on karyotype
2. Any age
3. Biological parent of Turner syndrome patient
4. Relatives of Turner syndrome patient
5. 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:

1\. Diagnosis other than Turner syndrome

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

Patient

Turner Syndrome

Family member

Family member of patient with Turner Syndrome

Primary outcome measure

  • Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition. [ Time Frame: One year ]

Central Contacts and Locations

Central contacts

Veronica Gomez-Lobo, M.D.

(301) 435-7567veronica.gomez-lobo@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

NIH Clinical Center Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

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

Last update posted

Aug 6, 2026

Last verified

Aug 4, 2026

Keywords

  • Gynecology disorder

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) on 2026-08-06.