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

March 5, 2024 updated by: University Hospital, Strasbourg, France

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

50

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Lyon, France
        • Recruiting
        • Hospice Civil de Lyon
        • Contact:
        • Sub-Investigator:
          • Patricia BRETONES, MD
        • Sub-Investigator:
          • Carine VILLANUEAVA, MD
        • Principal Investigator:
          • Nicolas CHATRON, PhD
        • Sub-Investigator:
          • Aude BRAC DE LA PERRIERE, MD
      • Strasbourg, France
        • Recruiting
        • Hopitaux Universitaire de Strasbourg
        • Contact:
        • Sub-Investigator:
          • Sylvie ROSSIGNOL, MD-PhD
        • Sub-Investigator:
          • Nathalie JEANDIDIER, MD-PhD
        • Sub-Investigator:
          • Thibault BAHOUGNE, MD
        • Sub-Investigator:
          • Mathilda KRETZ, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Turner syndrome patients
Patients with a Turner syndrome confirmed by karyotype.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Proportion of patients presenting Y chromosome material detected by the cfDNA test
Time Frame: From date of inclusion to date of genetic analysis result
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 Outcome Measures

Outcome Measure
Measure Description
Time Frame
Y chromosome mosaic rate detectable by the cfDNA test.
Time Frame: Up to 26 months
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
Comparison between the cfDNA test and routine FISH analysis
Time Frame: Up to 30 months
An inferential analysis will compare the proportion of Y chromosome detection by the cfDNA test and by FISH.
Up to 30 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 28, 2024

Primary Completion (Estimated)

June 1, 2028

Study Completion (Estimated)

October 1, 2028

Study Registration Dates

First Submitted

October 20, 2023

First Submitted That Met QC Criteria

January 9, 2024

First Posted (Actual)

January 12, 2024

Study Record Updates

Last Update Posted (Estimated)

March 6, 2024

Last Update Submitted That Met QC Criteria

March 5, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 8788

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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