Solid Tumors in RASopathies (4218)
Primary Purpose
RASopathy, Costello Syndrome, Cardio-Facio-Cutaneous Syndrome
Status
Recruiting
Phase
Not Applicable
Locations
Italy
Study Type
Interventional
Intervention
Molecular characterization of solid tumor in RASopathies
Sponsored by
About this trial
This is an interventional diagnostic trial for RASopathy
Eligibility Criteria
Inclusion Criteria: Clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: Clinical diagnosis of RASopathy without molecular characterization
Sites / Locations
- Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCSRecruiting
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Case group
Arm Description
To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies
Outcomes
Primary Outcome Measures
Prevalence of solid tumors in RASopathies
To detect prevalence of solid tumors in monocentric cohort of RASopathies
Secondary Outcome Measures
Molecular characterization of solid tumors in RASopathies
NGS analysis on tumor tissue samples
Full Information
NCT ID
NCT05761314
First Posted
February 27, 2023
Last Updated
February 27, 2023
Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
1. Study Identification
Unique Protocol Identification Number
NCT05761314
Brief Title
Solid Tumors in RASopathies
Acronym
4218
Official Title
Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
Study Type
Interventional
2. Study Status
Record Verification Date
February 2023
Overall Recruitment Status
Recruiting
Study Start Date
October 12, 2021 (Actual)
Primary Completion Date
October 30, 2023 (Anticipated)
Study Completion Date
October 12, 2026 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
5. Study Description
Brief 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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
RASopathy, Costello Syndrome, Cardio-Facio-Cutaneous Syndrome, Noonan Syndrome
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
100 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Case group
Arm Type
Experimental
Arm Description
To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies
Intervention Type
Diagnostic Test
Intervention Name(s)
Molecular characterization of solid tumor in RASopathies
Intervention Description
NGS analysis on tumor sample
Primary Outcome Measure Information:
Title
Prevalence of solid tumors in RASopathies
Description
To detect prevalence of solid tumors in monocentric cohort of RASopathies
Time Frame
5 years
Secondary Outcome Measure Information:
Title
Molecular characterization of solid tumors in RASopathies
Description
NGS analysis on tumor tissue samples
Time Frame
5 years
10. Eligibility
Sex
All
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
Clinical and molecularly confirmed diagnosis of a RASopathy
Exclusion Criteria:
Clinical diagnosis of RASopathy without molecular characterization
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Chiara Leoni, MD, PhD
Phone
0039063381344
Email
chiara.leoni@policlinicogemelli.it
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Chiara Leoni, MD, PhD
Organizational Affiliation
Fondazione Policlinico A. Gemelli, IRCCS
Official's Role
Principal Investigator
Facility Information:
Facility Name
Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS
City
Roma
ZIP/Postal Code
00168
Country
Italy
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Chiara Leoni, MD, PhD
Phone
0039063381344
Email
chiara.leoni@policlinicogemelli.it
12. IPD Sharing Statement
Learn more about this trial
Solid Tumors in RASopathies
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