Disorder of Sex Development, 46,XYGENEXPLORNCT05867979
Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
A study testing Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes in people with Disorder of Sex Development, 46,XY, run by University Hospital, Montpellier at 1 site in France.
Trial summary
The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population. The main questions it aims to answer are: Identify constitutional structural variants by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular… Read more about this study
- Who is it for?
- Ages 6 months and older, men only
- Conditions the study is for
- Disorder of Sex Development, 46,XY
- What is being tested?
- Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- 5 Feb 2024to 15 Feb 2026
- 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 6 months and older
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- homogeneous XY male karyotype.
- patient at least 6 months old
- severe to moderate DSD (Prader 1 to 5) for which the molecular diagnosis is inconclusive after a gene panel analysis.
Who cannot join
- subject with a homogeneous or mosaic XX, or monosomal X karyotype.
- subject with an aneuploidy.
- subject with a conclusive molecular diagnosis explaining the observed DSD (i.e. carrier of a causal genotype already well characterized by functional studies)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
University Hospital Montpellier
Montpellier, 34000
Anne BERGOUGNOUX, PharmD PhD
Nicolas KALFA, MD PhD
About this study
Official title: Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population.
The main questions it aims to answer are:
Read more
- Identify constitutional structural variants by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
- Identify mosaic structural variants (present in a subpopulation of somatic cells only) by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
- Compare the diagnostic yields of OGM and of Comparative Genome Hybridization Array (CGH array) methods.
- Compare the diagnostic yields of the OGM and of Whole Genome Sequencing (National Sequencing Program), only if performed.
Participants will be required to:
- a follow-up interview with a physician to review their own and family medical and surgical history, with a focusing on DSD.
- An interview to assess their exposure to environmental pollutants during fetal life, using a validated questionnaire.
- a blood test with a 5mL tube to perform optical genome mapping analysis.
Read the detailed description
Patients with severe or moderate disorder of sex development (DSD) with a inconclusive molecular diagnosis will benefit from optical genome mapping analysis.
A venous blood sample on ethylenediaminetetraacetic acid (EDTA) tube (5mL) will be taken in order to extract the DNA that will be used for the optical genome mapping analysis.
- Conditions
- Disorder of Sex Development, 46,XY
- Being tested
- Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes
- Medical subject headings
- Disorder of Sex Development, 46,XY
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytesDiagnostic test
The one arm of the study will have a venous blood draw as part of the research. 1 EDTA tube of 5mL will be collected.
| Study group | Role | What they receive |
|---|---|---|
| patients with DSD and inconclusive molecular diagnosis | Experimental | The one arm of the study will have a venous blood draw as part of the research. 1 EDTA tube of 5mL will be collected. Receives: Diagnostic Test: Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants with a constitutional structural variants detected by OGM
A structural variant, present at the constitutional state in leukocyte DNA, and considered as likely pathogenic or pathogenic, identified by OGM in at least one of the included patients.
Measured: Day of inclusion
Secondary outcomes (1)
Number of Participants with mosaic structural variants detected by OGM
A structural variant, present at the mosaic state in leukocyte DNA (i.e. allelic imbalance less than 0.40), and considered as likely pathogenic or pathogenic, identified by OGM in at least one of the included patients.
Measured: Day of inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2023
- Study start5 Feb 2024
- Primary completion15 Feb 2026 (estimated)
- Study completion15 Feb 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Disorder of Sex Development, 46,XYStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe 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
- This is a single-center molecular biology pilot study on a single group of 20 patients with a disorder of sex development and inconclusive molecular diagnosis. The 20 blood samples from patients with severe or moderate DSD, with an inconclusive diagnosis will benefit from the Optical Genome Mapping.
- Masking
- None (open label)
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Françoise PARIS, MD PhD, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05867979
- Sponsor's protocol ID
- RECHMPL22_0236
- Other IDs
- 2022-A02498-35
- Acronym
- GENEXPLOR
- Status last verified
- Sep 2025
- First submitted
- 2 May 2023
- Last updated
- 30 Sep 2025
- 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 30 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
- ClinicalTrials.gov ID
- NCT05867979
- Acronym / sponsor ID
- GENEXPLOR / RECHMPL22_0236
- Conditions
- Disorder of Sex Development, 46,XY
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 5 Feb 2024 (actual)
- Primary completion
- 15 Feb 2026 (estimated)
- Study completion
- 15 Feb 2026 (estimated)
- First posted
- 22 May 2023 (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.
The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population.
The main questions it aims to answer are:
- Identify constitutional structural variants by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
- Identify mosaic structural variants (present in a subpopulation of somatic cells only) by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
- Compare the diagnostic yields of OGM and of Comparative Genome Hybridization Array (CGH array) methods.
- Compare the diagnostic yields of the OGM and of Whole Genome Sequencing (National Sequencing Program), only if performed.
Participants will be required to:
- a follow-up interview with a physician to review their own and family medical and surgical history, with a focusing on DSD.
- An interview to assess their exposure to environmental pollutants during fetal life, using a validated questionnaire.
- a blood test with a 5mL tube to perform optical genome mapping analysis.
Detailed description
Patients with severe or moderate disorder of sex development (DSD) with a inconclusive molecular diagnosis will benefit from optical genome mapping analysis.
A venous blood sample on ethylenediaminetetraacetic acid (EDTA) tube (5mL) will be taken in order to extract the DNA that will be used for the optical genome mapping analysis.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- This is a single-center molecular biology pilot study on a single group of 20 patients with a disorder of sex development and inconclusive molecular diagnosis. The 20 blood samples from patients with severe or moderate DSD, with an inconclusive diagnosis will benefit from the Optical Genome Mapping.
| Arm | Type | Receives |
|---|---|---|
| patients with DSD and inconclusive molecular diagnosis | Experimental | Diagnostic Test: Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytesThe one arm of the study will have a venous blood draw as part of the research. 1 EDTA tube of 5mL will be collected. |
Who may qualify
- Ages
- 6 months and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- homogeneous XY male karyotype.
- patient at least 6 months old
- severe to moderate DSD (Prader 1 to 5) for which the molecular diagnosis is inconclusive after a gene panel analysis.
Key exclusion criteria (3 listed)
- subject with a homogeneous or mosaic XX, or monosomal X karyotype.
- subject with an aneuploidy.
- subject with a conclusive molecular diagnosis explaining the observed DSD (i.e. carrier of a causal genotype already well characterized by functional studies)
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 |
|---|---|---|
| Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytesThe one arm of the study will have a venous blood draw as part of the research. 1 EDTA tube of 5mL will be collected. | Diagnostic test | patients with DSD and inconclusive molecular diagnosis |
Primary outcome
Number of Participants with a constitutional structural variants detected by OGM
Time frame: Day of inclusion
A structural variant, present at the constitutional state in leukocyte DNA, and considered as likely pathogenic or pathogenic, identified by OGM in at least one of the included patients.
1 secondary outcome
Number of Participants with mosaic structural variants detected by OGM
Time frame: Day of inclusion
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 30 Sep 2025.
- 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.
Françoise PARIS, MD PhD principal investigator
University Hospital, Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes in people with Disorder of Sex Development, 46,XY, run by University Hospital, Montpellier at 1 site 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 3 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 30 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 Françoise PARIS, MD PhD (+33615106371, f-paris@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants with a constitutional structural variants detected by OGM (time frame: Day of inclusion). 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 30 Sep 2025.