NCT06926127

Genomic Profiling of Genetic and Rare Diseases

Genomic Profiling of GENetic & RARE Diseases for the Customization of Care and Prevention Pathways

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 1,500 (estimated)
• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Academic / Other
• Sex: All
• Age: 1 Minute – 90 Years
• Healthy volunteers: Not accepted

Summary

In Italy, over 2 million patients are affected by Rare Diseases (RD), which pose significant challenges due to their clinical diversity, long diagnostic processes (often 4-5 years), and high socio-healthcare costs. The Italian healthcare system has recognized these challenges, leading to initiatives like a national Rare Diseases (RD) registry, a comprehensive list of Rare Diseases (RDs) eligible for healthcare exemptions, and the establishment of a National Committee for Rare Diseases. Research on the genetic mechanisms of Rare Diseases (RDs) is robust, particularly for innovative therapies, and ranks second to oncology. The Policlinico Universitario A. Gemelli IRCCS Foundation serves as a key reference institute for Rare Diseases (RD) in Lazio, managing over 10,000 patients through accredited centers. A recent initiative aims to enhance the Rare Diseases network by integrating genomic knowledge with clinical practice. The project focuses on utilizing Next Generation Sequencing (NGS) for early genetic diagnosis, promoting personalized medicine. Given the challenges the National Health Service faces in resource allocation for Rare Diseases (RD) and the recent approval of a new outpatient healthcare tariff, this initiative is timely. The foundation seeks to replace targeted genetic tests with Whole Exome Sequencing (WES), increasing the identification of molecular conditions and reducing diagnostic turnaround times.

Conditions

• Rare Diseases
• Genetic Disease

Interventions

Type	Name	Description
GENETIC	Whole Exome Sequencing (WES)	Blood samples, buccal swabs, and pathological tissue samples (skin/muscle) will be collected, and subsequently, DNA extracted from those tissues will be used for genomic analysis using Whole Exome Sequencing. The sample will follow the diagnostic pipeline already established inside the hospital. Moreover, the remaning aliquots of DNA extracted from the tissue (peripheral blood or tissue specimen) will be sent by the Genomics core facility to the Biobank for storage upon analysis completion.

Timeline

• Start date: 2024-11-05
• Primary completion: 2026-04-30
• Completion: 2030-02-28
• First posted: 2025-04-13
• Last updated: 2025-04-13

Locations

1 site across 1 country: Italy