Clinical trial NCT06202846: Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Official title: Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Turner Syndrome
Keywords: Turner syndrome
Y chromosome
Lead sponsor: University Hospital, Strasbourg, France
Sponsor class: OTHER
First posted: 2024-01-12
Enrollment: 50
Sex: FEMALE
Minimum age (years): 2
Maximum age (years): 74
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: * Plasma isolated from whole blood sampled on BCT strecl tube
* Whole blood sampled on heparin tube
Primary purpose: DIAGNOSTIC

Brief summary: 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.


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)

Primary outcomes:
measure: Proportion of patients presenting Y chromosome material detected by the cfDNA test
timeFrame: From date of inclusion to date of genetic analysis result
Secondary outcomes:
measure: Y chromosome mosaic rate detectable by the cfDNA test.
timeFrame: Up to 26 months
measure: Comparison between the cfDNA test and routine FISH analysis
timeFrame: Up to 30 months
Other outcomes:
Locations:
city: Lyon
country: France
facility: Hospice Civil de Lyon
city: Strasbourg
country: France
facility: Hopitaux Universitaire de strasbourg
Study officials:
References: