Actively Recruiting
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Led by University Hospital, Strasbourg, France · Updated on 2024-03-06
50
Participants Needed
2
Research Sites
17 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Turner syndrome is a condition affecting about 1 in 2500 female newborns, marked by short stature, gonadal problems, and bone issues. It is caused by changes in the X chromosome and can lead to complications including gonadoblastoma, a type of cancer. This risk is higher if Y chromosome material is present, but detecting this material is challenging due to its mosaic presence in tissues. Researchers are studying a new test using free circulating DNA (cfDNA) in blood to detect Y chromosome sequences in patients with Turner syndrome. The study will use a cfDNA-based test to look for Y chromosome sequences in 50 patients confirmed to have Turner syndrome by karyotype. The test's ability to detect mosaic Y chromosome material will be measured and compared to the standard fluorescence in situ hybridization (FISH) method used routinely. This comparison will help determine if the cfDNA test offers improved detection. Participants will provide blood samples for cfDNA testing, and results will be compared with FISH analysis over up to 30 months. Researchers will track the proportion of patients with detected Y chromosome material and assess the mosaic detection threshold. The study is led by the University Hospital in Strasbourg, France, and includes patients aged 2 to 74 years. Participation involves genetic testing and follow-up assessments to evaluate the test's clinical usefulness.
CONDITIONS
Brief Title
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patient aged 2 to 74 years
- Diagnosis of Turner syndrome confirmed by karyotype
- Provided consent to participate or legal representative has provided consent
- Affiliated with or benefiting from the French Social Security system
You will not qualify if you...
- Male phenotype
- Patient or legal representative has comprehension difficulties (e.g., language barriers)
- Patients covered by articles L.1121-5 to L.1121-8 of the French Public Health Code
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - From date of inclusion to date of genetic analysis result
Participants undergo genetic testing to detect Y chromosome material using cfDNA analysis and routine FISH analysis.
1 visit for blood sample collection
Duration - Up to 30 months
Participants are monitored to assess Y chromosome mosaic rate and compare cfDNA test results with routine FISH analysis over time.
Follow-up visits as needed over the monitoring period
Trial Site Locations
Total: 2 locations
1
Hospice Civil de Lyon
Lyon, France
Actively Recruiting
2
Hopitaux Universitaire de strasbourg
Strasbourg, France
Actively Recruiting
Research Team
C
Caroline SCHLUTH-BOLARD
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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