Identifying Genetic Variants in Patients with Disorders of Sex Development
Official title: Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
Run by University Hospital, Montpellier · NCT05867979 · Data updated 2026-11-12
This study is testing a new way to find genetic changes in people with Disorders of Sex Development to see if it works better than current methods.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 6 Months and up |
| Sex | Men only |
| Enrollment | 20 (estimated) |
| Sponsor | University Hospital, Montpellier Academic / other |
| Locations | 1 site (Montpellier) |
| Status | Recruiting |
| Started | February 5, 2024 |
| Main results expected | February 15, 2026 |
| Study ends | February 15, 2026 |
| Registry record updated | September 30, 2025 |
| Trial ID | NCT05867979 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients with a homogeneous XY male karyotype aged at least 6 months who have severe to moderate DSD with inconclusive molecular diagnoses.
✕Probably not a fit
Patients with a conclusive molecular diagnosis or those with a homogeneous or mosaic XX karyotype will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This clinical trial aims to identify structural variants in patients with Disorders of Sex Development (DSD) who have inconclusive molecular diagnoses. Using Optical Genome Mapping (OGM), the study will analyze DNA extracted from blood samples to detect both constitutional and mosaic structural variants. The trial will also compare the diagnostic yields of OGM with other methods such as Comparative Genome Hybridization Array and Whole Genome Sequencing. Participants will undergo interviews to gather medical history and assess environmental exposures.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic diagnosis and management for patients with DSD.
How similar studies have gone: While the use of Optical Genome Mapping is a relatively novel approach, similar studies have shown promise in identifying genetic variants in other conditions.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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. Exclusion Criteria: * subject with a homogeneous or mosaic XX, or monosomal X karyotype. * subject with an aneuploidy. * subject with a conclusive molecular diagnosis explaining the observed DSD (i.e. carrier of a causal genotype already well characterized by functional studies)
Where it's running
-
University Hospital Montpellier
Montpellier, France Recruiting
Study contacts
- Principal investigator: Françoise PARIS, MD PhD — University Hospital, Montpellier
- Study coordinator: Françoise PARIS, MD PhD
- Email: f-paris@chu-montpellier.fr
- Phone: +33615106371
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Freezing gonadal tissue to help preserve fertility in children with sex development disorders
This study is testing whether freezing and storing gonadal tissue can help children with sex development disorders keep their fertility for the future.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.