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

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: Male
Minimum Age: 6 months
Healthy Volunteers: f
View:

• 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.

Locations
Other Locations
France
University Hospital Montpellier
RECRUITING
Montpellier
Contact Information
Primary
Françoise PARIS, MD PhD
f-paris@chu-montpellier.fr
+33615106371
Backup
Anne BERGOUGNOUX, PharmD PhD
anne.bergougnoux@inserm.fr
+33411759879
Time Frame
Start Date: 2024-02-05
Estimated Completion Date: 2026-02-15
Participants
Target number of participants: 20
Treatments
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.
Related Therapeutic Areas
Sponsors
Leads: University Hospital, Montpellier

This content was sourced from clinicaltrials.gov

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