NCT06926127 Genomic Profiling of Genetic and Rare Diseases
| NCT ID | NCT06926127 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS |
| Condition | Rare Diseases |
| Study Type | INTERVENTIONAL |
| Enrollment | 1,500 participants |
| Start Date | 2024-11-05 |
| Primary Completion | 2026-04-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 1,500 participants in total. It began in 2024-11-05 with a primary completion date of 2026-04-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility 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.
Contact & Investigator
Giovanni Scambia
PRINCIPAL INVESTIGATOR
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Frequently Asked Questions
Who can join the NCT06926127 clinical trial?
This trial is open to participants of all sexes, aged 1 Minute or older, up to 90 Years, studying Rare Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06926127 currently recruiting?
Yes, NCT06926127 is actively recruiting participants. Contact the research team at giovanni.scambia@policlinicogemelli.it for enrollment information.
Where is the NCT06926127 trial being conducted?
This trial is being conducted at Rome, Italy.
Who is sponsoring the NCT06926127 clinical trial?
NCT06926127 is sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. The principal investigator is Giovanni Scambia at Fondazione Policlinico Universitario Agostino Gemelli IRCCS. The trial plans to enroll 1,500 participants.
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