🌐 EnglishEN

AI Cure is a research tool showing open data. Not medical advice. Discuss with your doctor. Terms

← Trials
🧪

Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis

RecruitingNAAges 6 Months - anyMaleUniversity Hospital, Montpellier
NCT05867979 on ClinicalTrials.gov ↗
💬

In plain words

What the trial is, and whether it could suit you

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

Sign in to get the eligibility rules as simple questions to take to your doctor.

Sign in
📋 Eligibility rules (as published)
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)
💊

What it tests

  • Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes
📍

Where

1 site
University Hospital Montpellier
Montpellier, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
🛡️

AI Cure shows public evidence (Open Targets, ClinicalTrials.gov, PubMed, openFDA, DepMap, AlphaFold) with its source, and AI summaries that cite it — not medical advice and not a cure. Treatment decisions belong with your doctor. Research ideas are shared only with approved researchers and labs, who can test them. In an emergency call your local emergency number (112 in India and Europe, 911 in the US). AI Cure Terms of Use · Privacy