RASopathy4218NCT05761314
Solid Tumors in RASopathies
A study testing Molecular characterization of solid tumor in RASopathies in people with RASopathy and Costello Syndrome, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- RASopathy, Costello Syndrome, Cardio-Facio-Cutaneous Syndrome
- What is being tested?
- Molecular characterization of solid tumor in RASopathies
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteItaly
- Study dates
- 12 Oct 2021to 12 Oct 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Clinical and molecularly confirmed diagnosis of a RASopathy
Who cannot join
- Clinical diagnosis of RASopathy without molecular characterization
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS
Roma, 00168
Chiara Leoni, MD, PhD, 0039063381344, chiara.leoni@policlinicogemelli.it
About this study
Official title: Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth.
RASopathies are characterized by multi-organ involvement, growth delay, premature aging and haemato-oncological manifestations.
Based on evidences provided by literature, cancer screening protocols are applied in some individuals affected by RASopathies, even though detailed information about prevalence and molecular pathogenesis of such tumors is still not clearly elucidate.
Read the detailed description
To define the prevalence of solid (non-haematological) neoplasms in a monocentric cohort of patients affected by RASopathies To perform Next Generation Sequencing (NGS) analysis on tissue samples to preliminarily characterize the molecular pathogenesis of solid tumors in these patients' categories.
- Being tested
- Molecular characterization of solid tumor in RASopathies
- Medical subject headings
- Costello Syndrome, Cardiofaciocutaneous syndrome, Noonan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Molecular characterization of solid tumor in RASopathiesDiagnostic test
NGS analysis on tumor sample
| Study group | Role | What they receive |
|---|---|---|
| Case group | Experimental | To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies Receives: Diagnostic Test: Molecular characterization of solid tumor in RASopathies |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of solid tumors in RASopathies
To detect prevalence of solid tumors in monocentric cohort of RASopathies
Measured: 5 years
Secondary outcomes (1)
Molecular characterization of solid tumors in RASopathies
NGS analysis on tumor tissue samples
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 posted9 Mar 2023
- Study start12 Oct 2021
- Primary completion30 Oct 2023
- Study completion12 Oct 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RASopathyStudies of the same condition, open and under way.
- 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
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Chiara Leoni, MD, PhD, Principal investigator, Fondazione Policlinico A. Gemelli, IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05761314
- Sponsor's protocol ID
- 4218
- Acronym
- 4218
- Status last verified
- Apr 2024
- First submitted
- 27 Feb 2023
- Last updated
- 4 Apr 2024
- 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 4 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
- ClinicalTrials.gov ID
- NCT05761314
- Acronym / sponsor ID
- 4218 / 4218
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 12 Oct 2021 (actual)
- Primary completion
- 30 Oct 2023 (actual)
- Study completion
- 12 Oct 2026 (estimated)
- First posted
- 9 Mar 2023 (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.
RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth.
RASopathies are characterized by multi-organ involvement, growth delay, premature aging and haemato-oncological manifestations.
Based on evidences provided by literature, cancer screening protocols are applied in some individuals affected by RASopathies, even though detailed information about prevalence and molecular pathogenesis of such tumors is still not clearly elucidate.
Detailed description
To define the prevalence of solid (non-haematological) neoplasms in a monocentric cohort of patients affected by RASopathies To perform Next Generation Sequencing (NGS) analysis on tissue samples to preliminarily characterize the molecular pathogenesis of solid tumors in these patients' categories.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Case group | Experimental | Diagnostic Test: Molecular characterization of solid tumor in RASopathiesTo report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Clinical and molecularly confirmed diagnosis of a RASopathy
Key exclusion criteria (1 listed)
- Clinical diagnosis of RASopathy without molecular characterization
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 |
|---|---|---|
| Molecular characterization of solid tumor in RASopathiesNGS analysis on tumor sample | Diagnostic test | Case group |
Primary outcome
Prevalence of solid tumors in RASopathies
Time frame: 5 years
To detect prevalence of solid tumors in monocentric cohort of RASopathies
1 secondary outcome
Molecular characterization of solid tumors in RASopathies
Time frame: 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Apr 2024.
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Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
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Clinical Trial of a MEK Inhibitor for RASopathy-Associated Severe Infantile Hypertrophic Cardiomyopathy: Baby MERIT
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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. This study is not recruiting at the moment.
Chiara Leoni, MD, PhD principal investigator
Fondazione Policlinico A. 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 Molecular characterization of solid tumor in RASopathies in people with RASopathy and Costello Syndrome, 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 1 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: status not confirmed, as of the sponsor's last update on 4 Apr 2024. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Chiara Leoni, MD, PhD (0039063381344, chiara.leoni@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of solid tumors in RASopathies (time frame: 5 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 4 Apr 2024.