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Recruiting Not applicable

Solid Tumors in RASopathies

NCT05761314 · tracked via the Priya Life Science Italy tracker
Phase
Not applicable
Started
2021-10-12
Last updated
2024-04-04

Condition(s) studied

RASopathyCostello SyndromeCardio-Facio-Cutaneous SyndromeNoonan Syndrome

Investigational drug(s) / intervention(s)

Molecular characterization of solid tumor in RASopathies

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

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.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria: * Clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: * Clinical diagnosis of RASopathy without molecular characterization

Primary outcome measure(s)

  • Prevalence of solid tumors in RASopathies — 5 years
    To detect prevalence of solid tumors in monocentric cohort of RASopathies

Trial sites (1)

FacilityCityRegionStatus
Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS Roma Italy Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05761314 on ClinicalTrials.gov ↗ ← All trials in Italy