Testing for Y chromosome in Turner syndrome patients using blood samples
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
This study is testing a new blood test to see if it can find Y chromosome material in women with Turner syndrome, which could help identify those at risk for certain health issues.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 50 (estimated) |
| Ages | 2 Years to 74 Years |
| Sex | Female |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 2 sites (Lyon and 1 other locations) |
| Trial ID | NCT06202846 on ClinicalTrials.gov |
What this trial studies
This study aims to develop a blood test that analyzes free circulating DNA (cfDNA) to identify the presence of Y chromosome sequences in patients diagnosed with Turner syndrome. Turner syndrome is a condition that affects females and can lead to serious complications, including an increased risk of gonadoblastoma if Y chromosome material is present. The study will involve patients aged 2 to 74 years who have a confirmed diagnosis of Turner syndrome. By utilizing cfDNA, which is easily collected from blood samples, the researchers hope to create a reliable method for detecting Y chromosome material that may be difficult to identify through traditional methods.
Who should consider this trial
Good fit: Ideal candidates for this study are females aged 2 to 74 years with a confirmed diagnosis of Turner syndrome.
Not a fit: Patients with a male phenotype or those unable to provide informed consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this test could significantly improve the early detection of gonadoblastoma risk in Turner syndrome patients.
How similar studies have performed: While the approach of using cfDNA for genetic analysis is established, this specific application in Turner syndrome is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion 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)
Where this trial is running
Lyon and 1 other locations
- Hospice Civil de Lyon — Lyon, France (Recruiting)
- Hopitaux Universitaire de strasbourg — Strasbourg, France (Recruiting)
Study contacts
- Study coordinator: Caroline SCHLUTH-BOLARD
- Email: caroline.schluth-bolard@chru-strasbourg.fr
- Phone: 03 69 55 07 58
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.