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Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases

Recruitingn/aAges any - anyAllIstituto Giannina Gaslini
NCT07884227 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability. The study combines reanalysis of previously generated genetic data with additional molecular investigations, including functional validation of variants of uncertain significance, RNA sequencing, and DNA methylation profiling. The project also aims to develop a computational infrastructure to support data reanalysis, integration, storage, and sharing, thereby improving the diagnostic workflow for rare diseases and supporting personalized patient care.

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📋 Eligibility rules (as published)
Inclusion Criteria: * Diagnosis of autism spectrum disorder and/or another neurodevelopmental disorder. * Moderate-to-severe intellectual disability, documented by psychometric assessment, with an intelligence quotient (IQ) below 50. * Previous genetic testing by chromosomal microarray analysis (CMA) and/or exome sequencing (ES). * Availability and willingness to provide biological samples, including peripheral blood, saliva, and urine, as required for the planned molecular investigations. * Availability of parental biological samples, whenever feasible. Exclusion Criteria: * An established clinical diagnosis that already explains the participant's clinical presentation. * Intellectual disability of a known non-genetic etiology, such as perinatal hypoxia.
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What it tests

  • Not listed
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Where

1 site
IRCCS Istituto Giannina Gaslini
Genova, Italy
🤝 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.
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