Clinical Research Directory
Browse clinical research sites, groups, and studies.
Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
Sponsor: University Hospital, Montpellier
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.
Official title: Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
Key Details
Gender
MALE
Age Range
6 Months - Any
Study Type
INTERVENTIONAL
Enrollment
20
Start Date
2024-02-05
Completion Date
2026-02-15
Last Updated
2025-09-30
Healthy Volunteers
No
Conditions
Interventions
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.
Locations (1)
University Hospital Montpellier
Montpellier, France