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

NCT05867979 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 20

Last updated 2025-09-30

No results posted yet for this 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.

Conditions

  • Disorder of Sex Development, 46,XY

Interventions

DIAGNOSTIC_TEST

Identify 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.

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Françoise PARIS, MD PhD · University Hospital, Montpellier

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
6 Months
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-02-05
Primary Completion
2026-02-15
Completion
2026-02-15

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05867979 on ClinicalTrials.gov