Genomic Profiling of Genetic and Rare Diseases

Launched by FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS · Apr 7, 2025

Keywords

ClinConnect Summary

This clinical trial is focused on understanding rare genetic diseases, which affect a large number of people in Italy. The goal is to use advanced genetic testing methods, called Whole Exome Sequencing (WES), to help doctors make quicker and more accurate diagnoses. This is important because rare diseases often take years to diagnose, and many patients struggle with the uncertainty of not knowing what condition they have. By improving the way genetic tests are done, the trial aims to identify more patients who may benefit from personalized treatments.

To participate in the trial, individuals aged between 0 and 90 years who have been evaluated by a doctor for a rare or genetic disease may be eligible. This includes patients who have symptoms suggesting a rare disease or those who have previously had genetic tests that didn’t provide clear answers. Participants can expect to undergo genetic testing that could lead to a better understanding of their condition, which might help in planning their treatment or care. It’s important to note that anyone who does not wish to participate for any reason will not be included in the study.

Gender

ALL

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.