Solid Tumors in RASopathies
NCT05761314 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100
Last updated 2024-04-04
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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