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

Turner Syndrome Clinical Trial

— Turner-Ylc  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06202846
• Other study ID #: 8788
• Status: Recruiting
• Phase: N/A
• Start date: February 28, 2024
• Est. completion date: October 2028

Study information

• Verified date: March 2024
• Source: University Hospital, Strasbourg, France
• Contact: Caroline SCHLUTH-BOLARD
• Phone: 03 69 55 07 58
• Email: caroline.schluth-bolard[@]chru-strasbourg.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 50
• Est. completion date: October 2028
• Est. primary completion date: June 2028
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 2 Years to 74 Years

Eligibility

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)

Related Conditions & MeSH terms

• Gonadal Dysgenesis
• Syndrome
• Turner Syndrome

Intervention

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 was obtained by FISH.

Locations

Country	Name	City	State
France	Hospice Civil de Lyon	Lyon
France	Hopitaux Universitaire de strasbourg	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Proportion of patients presenting Y chromosome material detected by the cfDNA test	An inferential analysis will allow to estimate the proportion of Y chromosome detection by the cfDNA test and secondly to compare it with data from the literature.	From date of inclusion to date of genetic analysis result
Secondary	Y chromosome mosaic rate detectable by the cfDNA test.	Dilution of female (XX) and male (XY) plasma in order to evaluate the detection limit of y chromosome material by the cfDNA test.	Up to 26 months
Secondary	Comparison between the cfDNA test and routine FISH analysis	An inferential analysis will compare the proportion of Y chromosome detection by the cfDNA test and by FISH.	Up to 30 months