Actively Recruiting
Search for Structural Variants in Patients With Disorders of Sex Development and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
Led by University Hospital, Montpellier · Updated on 2025-09-30
20
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to identify structural variants in patients with disorders of sex development (DSD) who have an unclear molecular diagnosis. The study focuses on using Optical Genome Mapping (OGM) to detect both constitutional and mosaic structural variants in DNA extracted from blood leukocytes. It also compares the diagnostic results of OGM with other methods like Comparative Genome Hybridization Array (CGH array) and Whole Genome Sequencing when available. This trial is sponsored by the University Hospital, Montpellier, and targets patients with moderate to severe DSD and inconclusive genetic testing so far. Participants will provide a blood sample drawn into one 5 mL EDTA tube for DNA extraction to perform the optical genome mapping analysis. They will also undergo interviews to review their personal and family medical history related to DSD, and assess environmental pollutant exposure during fetal life through a questionnaire. The study includes only one arm where all participants receive the diagnostic blood test. During the study, participants will be involved in blood testing and interviews that help gather detailed clinical and environmental information. Researchers will measure the number of participants with constitutional and mosaic structural variants detected by OGM at the time of inclusion. This study does not involve treatment but focuses on improved diagnosis. Participants can expect a comprehensive genetic analysis and follow-up discussions about their condition.
CONDITIONS
Brief Title
Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male with a homogeneous XY karyotype
- At least 6 months old
- Moderate to severe disorder of sex development (Prader stages 1 to 5)
- Molecular diagnosis for DSD is inconclusive after gene panel analysis
You will not qualify if you...
- Female or mosaic XX or monosomal X karyotype
- Presence of aneuploidy
- Conclusive molecular diagnosis explaining the DSD with a known causal genotype already characterized by functional studies
- Not male with homogeneous XY karyotype
- Molecular diagnosis is conclusive for DSD condition already explained by genetics research results
- Less than 6 months old or younger than the minimum age requirement
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Day of inclusion
Participants provide a venous blood sample for optical genome mapping analysis to identify structural variants.
1 visit (in-person)
Trial Site Locations
Total: 1 location
1
University Hospital Montpellier
Montpellier, France, 34000
Actively Recruiting
Research Team
F
Françoise PARIS, MD PhD
A
Anne BERGOUGNOUX, PharmD PhD
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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