Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome

Launched by UNIVERSITY HOSPITAL, STRASBOURG, FRANCE · Jan 9, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on developing a new test to detect Y chromosome material in the blood of patients with Turner syndrome, a condition that affects girls and women, leading to various health challenges. Turner syndrome is often linked to a higher risk of certain complications, including a type of cancer called gonadoblastoma, especially if Y chromosome material is present. The researchers aim to test 50 women and girls with Turner syndrome to see how effectively this new blood test can identify Y chromosome sequences compared to the standard laboratory method currently used.

To be eligible for this study, participants should be between the ages of 2 and 74, have a confirmed diagnosis of Turner syndrome, and be part of the French Social Security system. Participants will provide consent, either themselves or through a legal representative. Throughout the study, participants can expect to have their blood tested and may help improve understanding of Turner syndrome and its associated risks. This research is important as it may lead to better screening methods for women with Turner syndrome, helping to manage their health more effectively.

Gender

FEMALE

Eligibility criteria

• Inclusion Criteria:
• • patient aged 2 to 74 years
• • with a diagnosis of Turner syndrome confirmed by karyotype
• • who have given their consent or whose legal representative(s) have given their consent(s) consent(s) to participate in the study
• • affiliated to the French Social Security system or benefiting from such a system
• Exclusion Criteria:
• • male phenotype
• • patient or legal representative(s) with comprehension difficulties (linguistic, etc.)
• • patients covered by articles L.1121-5 to L.1121-8 of the CSP (French Public Health Code)