Status:
RECRUITING
Genomic Profiling of Genetic and Rare Diseases
Lead Sponsor:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Conditions:
Rare Diseases
Genetic Disease
Eligibility:
All Genders
1-90 years
Phase:
NA
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-hea...
Eligibility Criteria
Inclusion
- 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
- Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.
Key Trial Info
Start Date :
November 5 2024
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
February 28 2030
Estimated Enrollment :
1500 Patients enrolled
Trial Details
Trial ID
NCT06926127
Start Date
November 5 2024
End Date
February 28 2030
Last Update
April 13 2025
Active Locations (1)
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1
Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC PEDIATRIA
Rome, Lazio, Italy, 00168