NCT Number: NCT05867979
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.
Interested in participating?
Request Info6 month and older
Male
Interventional
Not applicable
Montpellier, 34000, France
Location status: Recruiting
Anne BERGOUGNOUX, PharmD PhD
CONTACT
Franck PELLESTOR, PUPH
SUB_INVESTIGATOR
Jacques PUECHBERTY, MD PhD
SUB_INVESTIGATOR
Nicolas KALFA, MD PhD
SUB_INVESTIGATOR
Vincent GATINOIS, MD
SUB_INVESTIGATOR
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.
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
Exclusion criteria
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.
Time frame: Day of inclusion
A structural variant, present at the constitutional state in leukocyte DNA, and considered as likely pathogenic or pathogenic, identified by OGM in at least one of the included patients.
Time frame: Day of inclusion
A structural variant, present at the mosaic state in leukocyte DNA (i.e. allelic imbalance less than 0.40), and considered as likely pathogenic or pathogenic, identified by OGM in at least one of the included patients.
Contact information is provided by the study sponsor or research team.
Anne BERGOUGNOUX, PharmD PhD
CONTACT
Françoise PARIS, MD PhD
CONTACT
University Hospital, Montpellier
Other
Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
Acronym: GENEXPLOR
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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