NCT05867979

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

Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 20 (estimated)
• Sponsor: University Hospital, Montpellier · Academic / Other
• Sex: Male
• Age: 6 Months
• Healthy volunteers: Not accepted

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.

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

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2024-02-05
• Primary completion: 2026-02-15
• Completion: 2026-02-15
• First posted: 2023-05-22
• Last updated: 2025-09-30

Locations

1 site across 1 country: France