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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

About this trial

This is an interventional diagnostic trial for RASopathy

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

Studies a U.S. FDA-regulated Device Product

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

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

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

chiara.leoni@policlinicogemelli.it

12. IPD Sharing Statement

Learn more about this trial

Solid Tumors in RASopathies

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