Ireland
--:--IST
Latest
Astellas Expands Its 330 Million Euro Tralee Biopharma Facility with a Second Aseptic Filling Line to Double Drug-Product Capacity Xeolas Pharmaceuticals Opens 158,000 Sq Ft State-of-the-Art Baldoyle Facility to Scale Specialty Medicine Manufacturing Priya Life Science Partners with Fleming for the 9th Annual Corporate Compliance & Transparency in Life Sciences Summit in Zurich Ireland Has the Capital and the Lessons: Digital Project Management Is How They Become Delivery Dunbar Pharma Brings First Plant-Derived Dronabinol API to UK Market Through IPS Pharma Leveraging Priya Life Science as a Data Tracker: The Ultimate Use Case & Career Guide Astellas Expands Its 330 Million Euro Tralee Biopharma Facility with a Second Aseptic Filling Line to Double Drug-Product Capacity Xeolas Pharmaceuticals Opens 158,000 Sq Ft State-of-the-Art Baldoyle Facility to Scale Specialty Medicine Manufacturing Priya Life Science Partners with Fleming for the 9th Annual Corporate Compliance & Transparency in Life Sciences Summit in Zurich Ireland Has the Capital and the Lessons: Digital Project Management Is How They Become Delivery Dunbar Pharma Brings First Plant-Derived Dronabinol API to UK Market Through IPS Pharma Leveraging Priya Life Science as a Data Tracker: The Ultimate Use Case & Career Guide
Clinical Trials in Italy / NCT07884227
Recruiting Observational

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

NCT07884227 · tracked via the Priya Life Science Italy tracker
Sponsor
Istituto Giannina Gaslini
Phase
Observational
Started
2023-09-04
Last updated
2026-10-20

Condition(s) studied

Neurodevelopmental DisordersIntellectual DisabilityAutism Spectrum DisorderGenetic Diseases, Inborn

Study summary

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.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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.

Primary outcome measure(s)

  • Proportion of Participants Receiving a Genetic Diagnosis — Up to 24 months
    Proportion of participants in whom a specific genetic diagnosis is established following reanalysis of existing genetic data and, where applicable, additional molecular investigations. The diagnostic yield will be assessed by identifying the proportion of participants receiving a genetic diagnosis among those evaluated.

Trial sites (1)

FacilityCityRegionStatus
IRCCS Istituto Giannina Gaslini Genova Italy Recruiting

More Istituto Giannina Gaslini trials in Italy

Neuro-modulation of Central Pain Pathways in Non Inflammatory Musculoskeletal Pain Syndrome Enrolling by invitation
Genetic Basis of SARS-CoV-2 Infection-Associated Multisystem Inflammatory Syndrome in Children (MIS-C) Recruiting
Bone Health in Adults With Duchenne Muscular Dystrophy: A Survey on Osteoporosis, Fractures and Treatment. Recruiting
Neuroradiological Features of Noonan Syndrome and Genotype-Phenotype Correlations Recruiting
Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population Recruiting

Other trials for the same condition

Cognitive Training in Virtual Reality for Autism Starting soon
Feasibility and Usability of a Virtual Reality System Enrolling by invitation
Promoting Communication in Minimally Verbal Autistic Children with Social Robot Enrolling by invitation
Emotional Skills Training with Social Robot Recruiting
Growing Up in Multifactorial Risk Conditions Enrolling by invitation
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07884227 on ClinicalTrials.gov ↗ ← All trials in Italy