Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: cfDNA analysis.
- Who it may be relevant to
- Registry conditions: Turner Syndrome. Basic parameters: 2 years — 74 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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. 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.
Interventions
- Genetic cfDNA analysis
In order to compare the performance of the ctDNA test with techniques used in routine diagnostics, we will compare the results obtained by the ctDNA test with those obtained by FISH. compare the results obtained by the ctDNA test and FISH. This will enable us to identify a potential diagnostic gain. We will compare the percentage of patients for whom a positive test result result was obtained by the lncDNA test (Y chromosome detection) to the percentage of patients for whom a positive result wa
Primary outcome measures
- Proportion of patients presenting Y chromosome material detected by the cfDNA test [Time frame: From date of inclusion to date of genetic analysis result]
Secondary outcome measures (2)
- Y chromosome mosaic rate detectable by the cfDNA test. [Time frame: Up to 26 months]
- Comparison between the cfDNA test and routine FISH analysis [Time frame: Up to 30 months]
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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
France · 2 centers
- Hospice Civil de Lyon — Lyon
- Hopitaux Universitaire de strasbourg — Strasbourg
Identifiers
NCT: NCT06202846 · 8788