Clinical trial NCT06926127: Genomic Profiling of Genetic and Rare Diseases
Official title: Genomic Profiling of GENetic & RARE Diseases for the Customization of Care and Prevention Pathways
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Rare Diseases
Genetic Disease
Lead sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Sponsor class: OTHER
First posted: 2025-04-13
Enrollment: 1500
Sex: ALL
Minimum age (years): 1
Maximum age (years): 90
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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.

Primary outcomes:
measure: Reduce diagnostic timelapse of rare genetic conditions
timeFrame: from 1 year to 4 years
Secondary outcomes:
measure: Improve the hospital's diagnostic rate
timeFrame: 5 years
measure: Identify an increasing number of molecular variants
timeFrame: 5 years
measure: Reduce healthcare costs for a definitive diagnosis
timeFrame: 5 years
Other outcomes:
Locations:
city: Roma
country: Italy
facility: Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC PEDIATRIA
state: Lazio
Study officials:
affiliation: Fondazione Policlinico Universitario A. Gemelli, IRCCS
name: Giovanni Scambia
role: PRINCIPAL_INVESTIGATOR
References: