Solid Tumors in RASopathies (4218)

April 3, 2024 updated by: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Estimated)

100

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
      • Roma, Italy, 00168
        • Recruiting
        • Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion Criteria:

  • Clinical diagnosis of RASopathy without molecular characterization

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

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: Case group
To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies
Diagnostic test: Molecular characterization of solid tumor in RASopathies
NGS analysis on tumor sample

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Prevalence of solid tumors in RASopathies
Time Frame: 5 years
To detect prevalence of solid tumors in monocentric cohort of RASopathies
5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Molecular characterization of solid tumors in RASopathies
Time Frame: 5 years
NGS analysis on tumor tissue samples
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Investigators

  • Principal Investigator: Chiara Leoni, MD, PhD, Fondazione Policlinico A. Gemelli, IRCCS

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 12, 2021

Primary Completion (Actual)

October 30, 2023

Study Completion (Estimated)

October 12, 2026

Study Registration Dates

First Submitted

February 27, 2023

First Submitted That Met QC Criteria

February 27, 2023

First Posted (Actual)

March 9, 2023

Study Record Updates

Last Update Posted (Actual)

April 4, 2024

Last Update Submitted That Met QC Criteria

April 3, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 4218

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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