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

NCT06202846 | Recruiting

• 1 other identifier: 8788
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 2

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.

Conditions

Turner Syndrome

Keywords

Turner syndrome; Y chromosome

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Y chromosome mosaic rate detectable by the cfDNA test.

  Up to 26 months

• Comparison between the cfDNA test and routine FISH analysis

  Up to 30 months

Study Arms (1)

Turner syndrome patients

EXPERIMENTAL

Patients with a Turner syndrome confirmed by karyotype.

Genetic: cfDNA analysis

Interventions

cfDNA analysis 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.

Turner syndrome patients

Eligibility Criteria

• Age: 2 Years - 74 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (2)

Hospice Civil de Lyon

Lyon, France

RECRUITING

Hopitaux Universitaire de strasbourg

Strasbourg, France

RECRUITING

MeSH Terms

Conditions

Turner Syndrome

Condition Hierarchy (Ancestors)

Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases

Central Study Contacts

Caroline SCHLUTH-BOLARD

CONTACT

03 69 55 07 58; caroline.schluth-bolard@chru-strasbourg.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

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

Study Record Dates

• First Submitted: October 20, 2023
• First Posted: January 12, 2024
• Study Start: February 28, 2024
• Primary Completion (Estimated): June 1, 2028
• Study Completion (Estimated): October 1, 2028
• Last Updated: March 6, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)