Solid Tumors in RASopathies

NCT05761314 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100

Last updated 2024-04-04

No results posted yet for this study

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.

Conditions

  • RASopathy
  • Costello Syndrome
  • Cardio-Facio-Cutaneous Syndrome
  • Noonan Syndrome

Interventions

DIAGNOSTIC_TEST

Molecular characterization of solid tumor in RASopathies

NGS analysis on tumor sample

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Principal Investigators

  • Chiara Leoni, MD, PhD · Fondazione Policlinico A. Gemelli, IRCCS

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-10-12
Primary Completion
2023-10-30
Completion
2026-10-12

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05761314 on ClinicalTrials.gov