Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
Key facts
- Where
- Genova, ItalySee the site
Where in Italy
- IRCCS Istituto Giannina GasliniGenova, ItalyTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Istituto Giannina Gaslini
- Trial code
- NCT07884227
- Record updated
- 20 October 2026
- Original description
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.Read full original descriptionShow less
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.
Inclusion: 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: An established clinical diagnosis that already explains the participant's clinical presentation; Intellectual disability of a known non-genetic etiology, such as perinatal hypoxia.