University Hospital, Montpellier
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.
Disorder of Sex Development, 46,XY
Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes
Not Applicable
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.}}
| Study Type : | Interventional |
| Estimated Enrollment : | 20 participants |
| Masking : | None (Open Label) |
| Primary Purpose : | Diagnostic |
| Official Title : | Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD |
| Actual Study Start Date : | February 5, 2024 |
| Estimated Primary Completion Date : | June 15, 2025 |
| Estimated Study Completion Date : | June 15, 2025 |
| Arm | Intervention/treatment |
|---|---|
|
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. |
Diagnostic Test: Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes |
| Ages Eligible for Study: | 6 Months |
| Sexes Eligible for Study: | Male |
| Accepts Healthy Volunteers: | No |
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Recruiting
University Hospital Montpellier
Montpellier, France, 34000