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NCT05761314 Clinical Trial

Solid Tumors in RASopathies

Noonan Syndrome Clinical Trial

— 4218  

Official title:
Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT05761314
Other study ID # 4218
Secondary ID
Status Recruiting
Phase N/A
First received
Last updated
Start date October 12, 2021
Est. completion date October 12, 2026

Study information
Verified date April 2024
Source Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Contact Chiara Leoni, MD, PhD
Phone 0039063381344
Email chiara.leoni@policlinicogemelli.it
Is FDA regulated No
Health authority
Study type Interventional

Clinical 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. 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.

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 100
Est. completion date October 12, 2026
Est. primary completion date October 30, 2023
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - Clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: - Clinical diagnosis of RASopathy without molecular characterization

Study Design

Related Conditions & MeSH terms

Intervention

Diagnostic Test:
• Molecular characterization of solid tumor in RASopathies
NGS analysis on tumor sample

Locations
Country Name City State
Italy Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS Roma

Sponsors (1)
Lead Sponsor Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome
Type Measure Description Time frame Safety issue
Primary Prevalence of solid tumors in RASopathies To detect prevalence of solid tumors in monocentric cohort of RASopathies 5 years
Secondary Molecular characterization of solid tumors in RASopathies NGS analysis on tumor tissue samples 5 years
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