Blood test to find Y chromosome material in Turner syndrome
Studies a blood test seeking Y chromosome in Turner syndrome.
Key facts
- Who runs it
- University Hospital, Strasbourg, France
- Where
- France2 sites in 1 countryChoose a country to see its sites
- Trial code
- Registry title
- Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
- Status
- Recruiting
- People taking part
- 50 people, planned
- Started
- 28 Feb 2024
- Expected to end
- Oct 2028
- Type of study
- Interventional
- Treatments tested
- cfDNA analysis
- Record updated
- 6 March 2024
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for female patients with Turner syndrome. It tests a blood test (cfDNA analysis) that looks for pieces of the Y chromosome.
- Age
- 2 to 74 years
- Sex
- Female only
- Disease stage
- Turner syndrome confirmed by karyotype (a chromosome test).
- Biomarker or test result
- Diagnosis of Turner syndrome confirmed by karyotype.
Main reasons for not taking part
- Male body features (male phenotype)
- Patient or legal representative has trouble understanding, for example because of language
- People protected under articles L.1121-5 to L.1121-8 of the French Public Health Code
- Not covered by the French Social Security system
The registry criteria, word for word
Show all 7 criteriaShow less
Who can take part
- 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
Who cannot take part
- 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)
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 2 and 74 years old?
This trial has no sites in United States.
It has sites in one country. Choose a country to see its sites.
About the trial
What the trial wants to find out
Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality. The clinical course can be marked by various complications, including degeneration of gonadal streaks into cancer (gonadoblastoma). The risk of gonadoblastoma is increased by the presence of Y chromosome, with a risk of 19 to 43%. However, Y chromosome material may be difficult to identify due to its mosaic state, at varying rates depending on the tissue. Free circulating DNA (cfDNA) corresponds to fragments of extracellular DNA present in the plasma, released into the circulation during cell death processes by the various tissues of the body. Due to its multiple tissue origins and easy collection, cfDNA appears to be a suitable matrix for searching for low mosaic Y chromosome sequences in patients with Turner syndrome.
Read full original descriptionShow less
The main objective of the study is to develop a cfDNA-based test to look for Y chromosome sequences in 50 patients with Turner syndrome. The secondary objectives are to determine the mosaic detection threshold of this test and to compare the performance of this test with the fluorescence in situ hybridization (FISH) technique used in routine diagnosis.
This study will assess the detection sensitivity of this test and its relevance in a clinical context.
The group in the trial
- Turner syndrome patientsTreatment being tested
Patients with a Turner syndrome confirmed by karyotype.
Treatment: cfDNA analysis
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
- Plain-language title
- Blood test to find Y chromosome material in Turner syndromeGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 14 November 2026.
- Fit questions
- Built from NCT06202846, who can take part
- Record updated
- 6 March 2024