Identifying Genetic Variants in Patients with Disorders of Sex Development
Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 20 (estimated) |
| Ages | 6 Months and up |
| Sex | Male |
| Sponsor | University Hospital, Montpellier Academic / other |
| Locations | 1 site (Montpellier) |
| Trial ID | NCT05867979 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
Not a fit: Patients with a conclusive molecular diagnosis or those with a homogeneous or mosaic XX karyotype will not benefit from this study.
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 performed: While the use of Optical Genome Mapping is a relatively novel approach, similar studies have shown promise in identifying genetic variants in other conditions.
Eligibility criteria
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 this trial is running
Montpellier
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.