Rare DiseasesGEN&RARENCT06926127
Genomic Profiling of Genetic and Rare Diseases
A study testing Whole Exome Sequencing (WES) in people with Rare Diseases and Genetic Disease, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 minute to 90 years
- Conditions the study is for
- Rare Diseases, Genetic Disease
- What is being tested?
- Whole Exome Sequencing (WES)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1,500 participants
- Where
- 1 siteItaly
- Study dates
- 5 Nov 2024to 28 Feb 2030
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 minute to 90 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC PEDIATRIA
Rome, Lazio, 00168
Giovanni Scambia, +390630155701, giovanni.scambia@policlinicogemelli.it
Chiara Leoni, chiara.leoni@policlinicogemelli.it
About this study
Official title: 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.
- Conditions
- Rare Diseases, Genetic Disease
- Being tested
- Whole Exome Sequencing (WES)
- Medical subject headings
- Rare Diseases, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole Exome Sequencing (WES)Genetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Experimental | 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. Receives: Genetic: Whole Exome Sequencing (WES) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Reduce diagnostic timelapse of rare genetic conditions
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
Measured: from 1 year to 4 years
Secondary outcomes (3)
Improve the hospital's diagnostic rate
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.
Measured: 5 years
Identify an increasing number of molecular variants
Identify an increasing number of disease causing genes in rare conditions on 1500 biological samples processed with the Illumina Novaseq 6000 exome sequencing system.
Measured: 5 years
Reduce healthcare costs for a definitive diagnosis
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
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Apr 2025
- Study start5 Nov 2024
- Primary completion30 Apr 2026 (estimated)
- Study completion28 Feb 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Giovanni Scambia, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06926127
- Sponsor's protocol ID
- 6987
- Acronym
- GEN&RARE
- Status last verified
- Oct 2024
- First submitted
- 11 Oct 2024
- Last updated
- 13 Apr 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Profiling of GENetic & RARE Diseases for the Customization of Care and Prevention Pathways
- ClinicalTrials.gov ID
- NCT06926127
- Acronym / sponsor ID
- GEN&RARE / 6987
- Conditions
- Rare Diseases, Genetic Disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 5 Nov 2024 (actual)
- Primary completion
- 30 Apr 2026 (estimated)
- Study completion
- 28 Feb 2030 (estimated)
- First posted
- 13 Apr 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients | Experimental | Genetic: Whole Exome Sequencing (WES)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. |
Who may qualify
- Ages
- 1 minute to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (1 listed)
- Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole Exome Sequencing (WES)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. | Genetic | Patients |
Primary outcome
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
3 secondary outcomes
Improve the hospital's diagnostic rate
Time frame: 5 years
Identify an increasing number of molecular variants
Time frame: 5 years
Reduce healthcare costs for a definitive diagnosis
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Giovanni Scambia principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole Exome Sequencing (WES) in people with Rare Diseases and Genetic Disease, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Giovanni Scambia (+390630155701, giovanni.scambia@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Reduce diagnostic timelapse of rare genetic conditions (time frame: from 1 year to 4 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2025.