CClinicalTrials.gg
Sign In
RecruitingNCT05867979GENEXPLORUpdated Sep 30, 2025

Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis

An interventional study of Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes in Disorder of Sex Development, 46,XY, sponsored by University Hospital, Montpellier. Recruiting at 1 site in France. Open to male participants aged 6 Months and older. Per ClinicalTrials.gov, last updated 2025-09-30.

Sponsored by University Hospital, Montpellier · Not applicable, Interventional, and Diagnostic

From the registry’s dates

  • Primary completion was expected by Feb 2026, 7 months ago, but the record still lists the study as recruiting.
  • Started Feb 2024; still recruiting 2 years 8 months later.
Phase
Not applicable
Study type
Interventional
Enrollment
20
Allocation
Not applicable
Ages
6 Months and older
Sex
Male
01

Study 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 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.

02

Conditions studied

  • Disorder of Sex Development, 46,XY
03

In context

Lead sponsor

University Hospital, Montpellier is the lead sponsor of 1,244 studies on the registry; 225 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
6 Months and older
Sexes eligible
Male
Accepts healthy volunteers
No

Inclusion criteria

  • 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.

Exclusion criteria

Exclusion Criteria:

  • 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)
05

Study design

Phase
Not applicable
Primary purpose
Diagnostic
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
20 participants (estimated)

Study arms

  • Experimental
    patients with DSD and inconclusive molecular diagnosis

    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.

    Diagnostic Test: Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes

Interventions

  • Diagnostic testIdentify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes

    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.

06

What researchers measure

Primary outcomes

  1. 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.

    Time frame: 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.

    Time frame: Day of inclusion

07

Study locations

1 of 1 sites recruiting
  • University Hospital Montpellier
    Montpellier, 34000, France
    • Anne BERGOUGNOUX, PharmD PhD · Contact
    • Nicolas KALFA, MD PhD · Sub investigator
    • Jacques PUECHBERTY, MD PhD · Sub investigator
    • Vincent GATINOIS, MD · Sub investigator
    • Franck PELLESTOR, PUPH · Sub investigator
    Recruiting
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Sep 30, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT05867979
Lead sponsor
University Hospital, Montpellier
Responsible party
Sponsor
First posted
May 22, 2023
Start date
Feb 5, 2024
Primary completion
Feb 15, 2026 (estimated)
Completion
Feb 15, 2026 (estimated)
Last update
Sep 30, 2025

Study contacts

Françoise PARIS, MD PhD
Contact
f-paris@chu-montpellier.fr
+33615106371
Anne BERGOUGNOUX, PharmD PhD
Contact
anne.bergougnoux@inserm.fr
+33411759879
Françoise PARIS, MD PhD
principal investigator · University Hospital, Montpellier

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Interested in this study?

Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.

Contact study team

Follow this study

Get an email when the registry record changes — status, dates, results — or when someone posts here.

Sign in to follow

Discussion

Questions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.

Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.

Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.

Other studies in this condition

Disorder of Sex Development, 46,XY

Other studies from this sponsor

University Hospital, Montpellier

Start the discussion