Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes.
- Who it may be relevant to
- Registry conditions: Disorder of Sex Development, 46,XY. Basic parameters: from 6 months · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
Overview
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.
Detailed description
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.
Interventions
- Diagnostic test Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes
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.
Primary outcome measures
- Number of Participants with a constitutional structural variants detected by OGM [Time frame: Day of inclusion]
Secondary outcome measures (1)
- Number of Participants with mosaic structural variants detected by OGM [Time frame: Day of inclusion]
Eligibility 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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
France · 1 center
- University Hospital Montpellier — Montpellier
Identifiers
NCT: NCT05867979 · RECHMPL22_0236 · 2022-A02498-35