Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

50 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-02-28

Study Completion Date

2028-10-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Turner Syndrome

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

* Plasma isolated from whole blood sampled on BCT strecl tube
* Whole blood sampled on heparin tube

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Turner syndrome patients

Patients with a Turner syndrome confirmed by karyotype.

Group Type EXPERIMENTAL

cfDNA analysis

Intervention Type GENETIC

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 was obtained by FISH.

Interventions

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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 was obtained by FISH.

Intervention Type GENETIC

Eligibility Criteria

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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)

Minimum Eligible Age

2 Years

Maximum Eligible Age

74 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No