Genomic profiling for patients with rare and genetic diseases
Genomic Profiling of GENetic & RARE Diseases for the Customization of Care and Prevention Pathways
This study is trying to see if using advanced genetic testing can help doctors better understand and treat rare diseases for over 2 million patients in Italy.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 1500 (estimated) |
| Ages | 1 Minute to 90 Years |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 1 site (Rome, Lazio) |
| Trial ID | NCT06926127 on ClinicalTrials.gov |
What this trial studies
This initiative in Italy aims to address the challenges faced by over 2 million patients with rare diseases by integrating genomic knowledge into clinical practice. The project utilizes Whole Exome Sequencing (WES) to identify genetic mechanisms underlying these conditions, which often have long diagnostic processes and high healthcare costs. The Policlinico Universitario A. Gemelli IRCCS Foundation, a leading institute for rare diseases, manages a network of over 10,000 patients and seeks to enhance the understanding and treatment of rare diseases through advanced genetic analysis.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 0-90 years with suspected rare or genetic diseases who have undergone prior genetic testing without conclusive results.
Not a fit: Patients with common diseases or those whose conditions are already well understood and diagnosed may not benefit from this study.
Why it matters
Potential benefit: If successful, this project could significantly reduce the time to diagnosis and improve personalized treatment options for patients with rare diseases.
How similar studies have performed: Other studies utilizing genomic profiling and sequencing have shown promise in improving diagnosis and treatment of rare diseases, indicating a positive trend in this area.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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. Exclusion Criteria: * Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.
Where this trial is running
Rome, Lazio
- Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC PEDIATRIA — Rome, Lazio, Italy (Recruiting)
Study contacts
- Principal investigator: Giovanni Scambia — Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Study coordinator: Giovanni Scambia
- Email: giovanni.scambia@policlinicogemelli.it
- Phone: +390630155701
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.