Leopard: using multi-omics to boost genetic diagnosis for neurodevelopmental disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

LEOPARD is a multicenter observational project that reexamines existing genetic data with updated analysis and adds targeted molecular tests, RNA sequencing, and DNA methylation profiling. The goal is to increase the diagnostic yield for rare neurodevelopmental disorders where previous testing left many cases unexplained. A two-phase plan includes reanalysis of data from about 500 individuals and, for undiagnosed cases, additional molecular investigations in up to 200 patients. The project also builds a computational infrastructure to support data reanalysis, integration, storage, and sharing to facilitate personalized patient care.

Why it matters

Who can join: the full rules

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.

Where it's running

• IRCCS Istituto Giannina Gaslini
  Genova, Italy Recruiting

Study contacts

• Study coordinator: Aldamaria Puliti, MD, PhD
• Email: aldamariapuliti@gaslini.org
• Phone: +3901056362802

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.