NCT05761314

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
100

participants targeted

Target at P50-P75 for not_applicable

Timeline
5mo left

Started Oct 2021

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress91%
Oct 2021Oct 2026

Study Start

First participant enrolled

October 12, 2021

Completed
1.4 years until next milestone

First Submitted

Initial submission to the registry

February 27, 2023

Completed
10 days until next milestone

First Posted

Study publicly available on registry

March 9, 2023

Completed
8 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 30, 2023

Completed
3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

October 12, 2026

Expected
Last Updated

April 4, 2024

Status Verified

April 1, 2024

Enrollment Period

2 years

First QC Date

February 27, 2023

Last Update Submit

April 3, 2024

Conditions

RASopathyCostello SyndromeCardio-Facio-Cutaneous SyndromeNoonan Syndrome

Outcome Measures

Primary Outcomes (1)

  • Prevalence of solid tumors in RASopathies

    To detect prevalence of solid tumors in monocentric cohort of RASopathies

    5 years

Secondary Outcomes (1)

  • Molecular characterization of solid tumors in RASopathies

    5 years

Study Arms (1)

Case group

EXPERIMENTAL

To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies

Diagnostic Test: Molecular characterization of solid tumor in RASopathies

Interventions

Molecular characterization of solid tumor in RASopathiesDIAGNOSTIC_TEST

NGS analysis on tumor sample

Case group

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Clinical and molecularly confirmed diagnosis of a RASopathy

You may not qualify if:

  • Clinical diagnosis of RASopathy without molecular characterization

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

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

Roma, 00168, Italy

RECRUITING

MeSH Terms

Conditions

Costello SyndromeCardiofaciocutaneous syndromeNoonan Syndrome

Condition Hierarchy (Ancestors)

Craniofacial AbnormalitiesMusculoskeletal AbnormalitiesMusculoskeletal DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornHeart Defects, CongenitalCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesConnective Tissue DiseasesSkin and Connective Tissue Diseases

Study Officials

  • Chiara Leoni, MD, PhD

    Fondazione Policlinico A. Gemelli, IRCCS

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Chiara Leoni, MD, PhD

CONTACT

0039063381344chiara.leoni@policlinicogemelli.it

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 27, 2023

First Posted

March 9, 2023

Study Start

October 12, 2021

Primary Completion

October 30, 2023

Study Completion (Estimated)

October 12, 2026

Last Updated

April 4, 2024

Record last verified: 2024-04

Locations

IT(1)