Actively Recruiting
Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
Led by University Hospital, Montpellier · Updated on 2025-09-30
20
Participants Needed
1
Research Sites
105 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Homogeneous XY male karyotype
- Patient at least 6 months old
- Severe to moderate DSD (Prader 1 to 5) with an inconclusive molecular diagnosis after gene panel analysis
You will not qualify if you...
- Subject with homogeneous or mosaic XX, or monosomal X karyotype
- Subject with an aneuploidy
- Subject with a conclusive molecular diagnosis explaining the observed DSD (causal genotype well characterized)
AI-Screening
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Trial Site Locations
Total: 1 location
1
University Hospital Montpellier
Montpellier, France, 34000
Actively Recruiting
Research Team
F
Françoise PARIS, MD PhD
CONTACT
A
Anne BERGOUGNOUX, PharmD PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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