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Solid Tumors in RASopathies (4218)

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ClinicalTrials.gov Identifier: NCT05761314
Recruitment Status : Recruiting
First Posted : March 9, 2023
Last Update Posted : March 9, 2023
Sponsor:
Information provided by (Responsible Party):
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Study Description
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Brief 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.


Condition or disease Intervention/treatment Phase
RASopathy Costello Syndrome Cardio-Facio-Cutaneous Syndrome Noonan Syndrome Diagnostic Test: Molecular characterization of solid tumor in RASopathies Not Applicable

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.
Study Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
Actual Study Start Date : October 12, 2021
Estimated Primary Completion Date : October 30, 2023
Estimated Study Completion Date : October 12, 2026

Resource links provided by the National Library of Medicine


Arms and Interventions
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Arm Intervention/treatment
Experimental: Case group
To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies
 Diagnostic Test: Molecular characterization of solid tumor in RASopathies
NGS analysis on tumor sample


Outcome Measures
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Primary Outcome Measures :
  1. Prevalence of solid tumors in RASopathies [ Time Frame: 5 years ]
    To detect prevalence of solid tumors in monocentric cohort of RASopathies


Secondary Outcome Measures :
  1. Molecular characterization of solid tumors in RASopathies [ Time Frame: 5 years ]
    NGS analysis on tumor tissue samples


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion Criteria:

  • Clinical diagnosis of RASopathy without molecular characterization
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05761314


Contacts
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Contact: Chiara Leoni, MD, PhD 0039063381344 chiara.leoni@policlinicogemelli.it

Locations
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Italy
Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS Recruiting
Roma, Italy, 00168
Contact: Chiara Leoni, MD, PhD    0039063381344    chiara.leoni@policlinicogemelli.it   
Sponsors and Collaborators
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Investigators
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Principal Investigator: Chiara Leoni, MD, PhD Fondazione Policlinico A. Gemelli, IRCCS
More Information
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Responsible Party: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
ClinicalTrials.gov Identifier: NCT05761314    
Other Study ID Numbers: 4218
First Posted: March 9, 2023    Key Record Dates
Last Update Posted: March 9, 2023
Last Verified: February 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Noonan Syndrome
Costello Syndrome
Syndrome
Disease
Pathologic Processes
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
 Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Connective Tissue Diseases
Abnormalities, Multiple
Genetic Diseases, Inborn