Genomic Profiling of Genetic and Rare Diseases (GEN&RARE)
Genomic Profiling of GENetic & RARE Diseases for the Customization of Care and Prevention Pathways
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.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Giovanni Scambia
- Phone Number: +390630155701
- Email: giovanni.scambia@policlinicogemelli.it
Study Locations
-
-
Lazio
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Roma, Lazio, Italy, 00168
- Recruiting
- Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC PEDIATRIA
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Principal Investigator:
- Giovanni Scambia
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Contact:
- Giovanni Scambia
- Phone Number: +390630155701
- Email: giovanni.scambia@policlinicogemelli.it
-
Contact:
- Chiara Leoni
- Email: chiara.leoni@policlinicogemelli.it
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Sub-Investigator:
- Chiara Leoni
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Sub-Investigator:
- Camilla Nero
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Description
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.
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
|
Experimental: Patients
Patients with suspected rare or specific genetic diseases diagnosed based on clinical presentation and instrumental examination performed by geneticist or by a specialist physician experienced in the specific condition (e.g., phenotype associated with a known genetic syndrome, known neuromuscular disease, or known specific regional disease such as hypertrophic/dilated cardiomyopathy) are enrolled to undergo genetic testing for diagnostic purposes and to improve personalized treatment.
|
Blood samples, buccal swabs, and pathological tissue samples (skin/muscle) will be collected, and subsequently, DNA extracted from those tissues will be used for genomic analysis using Whole Exome Sequencing.
The sample will follow the diagnostic pipeline already established inside the hospital.
Moreover, the remaning aliquots of DNA extracted from the tissue (peripheral blood or tissue specimen) will be sent by the Genomics core facility to the Biobank for storage upon analysis completion.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Reduce diagnostic timelapse of rare genetic conditions
Time Frame: from 1 year to 4 years
|
To reduce the time frame between first clinical evaluation to molecular diagnosis by improve the genomic characterization of rare genetic conditions trought implementation of the actual molecular analysis (from targeted panels to whole exome sequencing - WES
|
from 1 year to 4 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Improve the hospital's diagnostic rate
Time Frame: 5 years
|
Improving the hospital's diagnostic rate by evaluating data collected from the analysis of 1500 biological samples with the Illumina Novaseq 6000 exome sequencing system.
|
5 years
|
|
Identify an increasing number of molecular variants
Time Frame: 5 years
|
Identify an increasing number of disease causing genes in rare conditions on 1500 biological samples processed with the Illumina Novaseq 6000 exome sequencing system.
|
5 years
|
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Reduce healthcare costs for a definitive diagnosis
Time Frame: 5 years
|
Reduce costs for molecular analysis to reach a definitive diagnosis by using untargeted molecular test (WES) vs multiple targeted panels often needed for complex rare disesases
|
5 years
|
Collaborators and Investigators
Investigators
- Principal Investigator: Giovanni Scambia, Fondazione Policlinico Universitario A. gemelli, IRCCS
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 6987
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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