Testing for Y chromosome in Turner syndrome patients using blood samples
Official title: Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Run by University Hospital, Strasbourg, France · NCT06202846 · Data updated 2026-11-12
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
| Study type | Interventional |
|---|---|
| Ages | 2 Years to 74 Years |
| Sex | Women only |
| Enrollment | 50 (estimated) |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 2 sites (Lyon and 1 other locations) |
| Status | Recruiting |
| Started | February 28, 2024 |
| Main results expected | June 2028 |
| Study ends | October 2028 |
| Registry record updated | March 6, 2024 |
| Trial ID | NCT06202846 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are females aged 2 to 74 years with a confirmed diagnosis of Turner syndrome.
✕Probably not a fit
Patients with a male phenotype or those unable to provide informed consent will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Inpegsomatropin vs Givopegsomatropin for short stature in girls with Turner syndrome
A 52-week, multicenter, randomized study tests whether Inpegsomatropin injections help prepubertal girls with Turner syndrome grow taller compared with a known treatment.
-
Parental plans and pregnancy outcomes in 93 women with Turner syndrome
This project describes parental plans and pregnancy outcomes for adult women with Turner syndrome treated at Strasbourg University Hospitals between 2009 and 2019.
-
Once-weekly lonapegsomatropin versus daily somatropin for children and adolescents with short stature due to growth-hormone-sufficient conditions
It will test whether a once-weekly injection of lonapegsomatropin helps children and teens with Turner syndrome, SHOX mutation, small-for-gestational-age, or idiopathic short stature grow as well as or better than daily somatropin.
-
Bleeding patterns with sequential versus continuous progesterone in adolescents with Turner syndrome
This study will test whether taking progesterone continuously or in a sequential (monthly) schedule changes bleeding patterns in adolescents with Turner syndrome who are on estrogen replacement therapy.
-
Investigating liver health in adults with Turner Syndrome
This study looks at liver health in adults with Turner Syndrome to see how common liver problems are and what might cause them.
-
Exercise testing in girls with Turner Syndrome
This study tests how well girls aged 8-18 with Turner Syndrome can exercise by measuring their heart and lung performance during a special exercise test.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.