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
• Status: Recruiting
• Phase: N/A
• 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
• 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

Related Conditions & MeSH terms

• Costello Syndrome
• Noonan Syndrome
• Syndrome

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