Genetic factors in Turner syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational project will collect whole-genome sequencing (WGS) data from people with Turner syndrome and consenting family members to create a centralized genetic database. Participants typically complete one visit for a survey or interview and provide blood, saliva, or other tissue samples, with referral into the NIAID Centralized Sequencing Protocol (17I0122) for sequencing. Researchers will analyze WGS data to look for candidate gene variants linked to meiosis, fertility, and spermatogenesis, and for variants associated with co-occurring conditions such as heart, kidney, bleeding, and autoimmune disorders. The database is intended to enable comparisons across many individuals with Turner syndrome to support future genetic discovery and hypothesis-driven research.

Why it matters

Who can join: the full rules

* 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

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Veronica Gomez-Lobo, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Study coordinator: Veronica Gomez-Lobo, M.D.
• Email: veronica.gomez-lobo@nih.gov
• Phone: (301) 435-7567

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.