Turner SyndromeTurner-YlcNCT06202846
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
A study testing cfDNA analysis in people with Turner Syndrome, run by University Hospital, Strasbourg, France at 2 sites in France.
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). Read more about this study
- Who is it for?
- Ages 2 to 74 years, women only
- Conditions the study is for
- Turner Syndrome
- What is being tested?
- cfDNA analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 2 sitesFrance
- Study dates
- 28 Feb 2024to Oct 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 74 years
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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 locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Recruiting
Hospice Civil de Lyon
Lyon
Nicolas CHATRON, PhD, 04 72 12 96 97, nicolas.chatron@chu-lyon.fr
Patricia BRETONES, MD
- Recruiting
Hopitaux Universitaire de strasbourg
Strasbourg
Caroline SCHLUTH-BOLARD, 03 69 55 07 58, caroline.schluth-bolard@chru-strasbourg.fr
Sylvie ROSSIGNOL, MD-PhD
About this study
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
- Being tested
- cfDNA analysis
- Keywords
- Turner syndrome, Y chromosome
- Medical subject headings
- Turner Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
cfDNA analysisGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Turner syndrome patients | Experimental | Patients with a Turner syndrome confirmed by karyotype. Receives: Genetic: cfDNA analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: From date of inclusion to date of genetic analysis result
Secondary outcomes (2)
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.
Measured: Up to 26 months
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.
Measured: Up to 30 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jan 2024
- Study start28 Feb 2024
- Primary completionJun 2028 (estimated)
- Study completionOct 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Turner SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- * Plasma isolated from whole blood sampled on BCT strecl tube * Whole blood sampled on heparin tube
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06202846
- Sponsor's protocol ID
- 8788
- Acronym
- Turner-Ylc
- Status last verified
- Mar 2024
- First submitted
- 20 Oct 2023
- Last updated
- 6 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
- ClinicalTrials.gov ID
- NCT06202846
- Acronym / sponsor ID
- Turner-Ylc / 8788
- Conditions
- Turner Syndrome
- Keywords
- Turner syndrome, Y chromosome
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 28 Feb 2024 (actual)
- Primary completion
- Jun 2028 (estimated)
- Study completion
- Oct 2028 (estimated)
- First posted
- 12 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- * Plasma isolated from whole blood sampled on BCT strecl tube * Whole blood sampled on heparin tube
| Arm | Type | Receives |
|---|---|---|
| Turner syndrome patients | Experimental | Genetic: cfDNA analysisPatients with a Turner syndrome confirmed by karyotype. |
Who may qualify
- Ages
- 2 to 74 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (3 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| cfDNA analysisIn 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. | Genetic | Turner syndrome patients |
Primary outcome
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.
2 secondary outcomes
Y chromosome mosaic rate detectable by the cfDNA test.
Time frame: Up to 26 months
Comparison between the cfDNA test and routine FISH analysis
Time frame: Up to 30 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing cfDNA analysis in people with Turner Syndrome, run by University Hospital, Strasbourg, France at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Caroline SCHLUTH-BOLARD (03 69 55 07 58, caroline.schluth-bolard@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of patients presenting Y chromosome material detected by the cfDNA test (time frame: From date of inclusion to date of genetic analysis result). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Mar 2024.