Genomic Profiling of Genetic and Rare Diseases
Recruiting now · Not applicable
Conditions studied: Rare Diseases, Genetic Disease
In brief
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.
Key facts
- Study ID
- NCT06926127
- Run by
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- People needed
- 1500
- Starts
- 2024-11-05
- Expected to finish
- 2030-02-28
- Last updated by the study team
- 2025-04-13
Who can join
Age: any, up to 90. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Age 0-90 years
- Patients with suspected rare disease/genetic disease diagnosed based on the clinical criteria/instrumental examination performed by a reference physician experienced in the specific condition (e.g., phenotype attributable to a known genetic syndrome, known neuromuscular disease, known organ-specific disease such as hypertrophic/dilated cardiomyopathy) to undergo genetic analysis
- Patients with a phenotype suggestive of a rare disease/genetic disease not specifically linked to a known condition
- Patients with suspected rare disease/genetic disease, who have undergone quantitative genetic analyses (e.g., array-CGH) or qualitative analyses (e.g., NGS panel of known genes), which yielded negative results
- Patients who have already received a genetic etiological diagnosis and for whom the current project can address further questions such as the personalization of a prevention or therapy pathway.
You may not qualify if…
- Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.
Where it is running
- Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC PEDIATRIA — Rome, Lazio, Italy (enrolling)
Full record on ClinicalTrials.gov
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