Disorder of Sex Development, 46,XY Clinical Trial
Official title:
Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
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.
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Not yet recruiting |
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Phase 3 |