NCT07884227Recruiting
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
Source: ClinicalTrials.gov · Last updated 20 Oct 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 200 (estimated)
- First submitted
- 13 Oct 2026
- Start date
- 4 Sept 2023
- Primary completion date
- 31 Dec 2026
- Lead sponsor
- Istituto Giannina Gaslini
- Diseases
- Autism
- NCT number
- NCT07884227
What you commit to
- Study type: Observational
- Planned participants: 200
- From 4 Sept 2023 to the primary completion date, 31 Dec 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- An established clinical diagnosis that already explains the participant's clinical presentation.
- Intellectual disability of a known non-genetic etiology, such as perinatal hypoxia.
Who the study is looking for
- 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.
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| IRCCS Istituto Giannina Gaslini Coordinator of this site? Confirm its status | Genova | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.