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NCT Number: NCT05761314

Solid Tumors in RASopathies

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.

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Key information

Conditions

RASopathy Abnormalities, Multiple Cardio-Facio-Cutaneous Syndrome Cardiofaciocutaneous syndrome Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Costello Syndrome Craniofacial Abnormalities Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Musculoskeletal Abnormalities Musculoskeletal Diseases Noonan Syndrome Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS

Roma, 00168, Italy

Location status: Recruiting

Location contact

Chiara Leoni, MD, PhD

CONTACT

[email protected]

0039063381344

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion criteria

  • Clinical diagnosis of RASopathy without molecular characterization

Treatment and study plan

Molecular characterization of solid tumor in RASopathies

Diagnostic Test

NGS analysis on tumor sample

Primary outcomes

  1. Prevalence of solid tumors in RASopathies

    Time frame: 5 years

    To detect prevalence of solid tumors in monocentric cohort of RASopathies

Secondary outcomes

  1. Molecular characterization of solid tumors in RASopathies

    Time frame: 5 years

    NGS analysis on tumor tissue samples

Study contacts

Contact information is provided by the study sponsor or research team.

Chiara Leoni, MD, PhD

CONTACT

[email protected]

0039063381344

Sponsors and collaborators

Lead sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Other

Registry information

Official study title

Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies

Acronym: 4218

Important dates

Study start
2021
Primary completion
2023
Study completion
2026
First posted
Mar 9, 2023
Registry last updated
Apr 4, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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