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Trial Title:
Solid Tumors in RASopathies
NCT ID:
NCT05761314
Condition:
RASopathy
Costello Syndrome
Cardio-Facio-Cutaneous Syndrome
Noonan Syndrome
Conditions: Official terms:
Noonan Syndrome
Costello Syndrome
Syndrome
Study type:
Interventional
Study phase:
N/A
Overall status:
Recruiting
Study design:
Allocation:
N/A
Intervention model:
Single Group Assignment
Primary purpose:
Diagnostic
Masking:
None (Open Label)
Intervention:
Intervention type:
Diagnostic Test
Intervention name:
Molecular characterization of solid tumor in RASopathies
Description:
NGS analysis on tumor sample
Arm group label:
Case group
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.
Detailed 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.
Criteria for eligibility:
Criteria:
Inclusion Criteria:
- Clinical and molecularly confirmed diagnosis of a RASopathy
Exclusion Criteria:
- Clinical diagnosis of RASopathy without molecular characterization
Gender:
All
Minimum age:
N/A
Maximum age:
N/A
Healthy volunteers:
Accepts Healthy Volunteers
Locations:
Facility:
Name:
Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS
Address:
City:
Roma
Zip:
00168
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Chiara Leoni, MD, PhD
Phone:
0039063381344
Email:
chiara.leoni@policlinicogemelli.it
Start date:
October 12, 2021
Completion date:
October 12, 2026
Lead sponsor:
Agency:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Agency class:
Other
Source:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05761314
