Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome (Turner-Ylc)

University Hospital, Strasbourg, France

Status: Enrolling

Conditions: Turner Syndrome

Treatments: Genetic: cfDNA analysis

Study type: Interventional

Funder types: Other

Identifiers

NCT06202846

8788

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: Female

Ages: 2 to 74 years old

Volunteers: No Healthy Volunteers

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)

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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50 participants in 1 patient group

Turner syndrome patients

Experimental group

Description:

Patients with a Turner syndrome confirmed by karyotype.

Treatment:

Genetic: cfDNA analysis