Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies

Not Applicable

Recruiting

• Conditions: RASopathy; Noonan Syndrome; Costello Syndrome; Cardio-Facio-Cutaneous Syndrome
• Interventions: Diagnostic Test: Diagnostic test

• Registration Number: NCT06331117
• Lead Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Brief Summary

Costello syndrome (CS) and cardio-facio cutaneous syndrome (CFCS) belongs to RASopathies, a group of multisystemic disorders caused by unregulated signalling through the RAS/MAPK pathway, an intracellular signalling pathway regulating multiple processes such as cellular proliferation, differentiation, survival, apoptosis and also contributing to oncogenesis. They share a recognizable facial appearance, aged appearance, growth delay, muscle-skeletal anomalies, heart defects, neuropsychological features, skin and ocular abnormalities, and cancer predisposition.

Even though life expectancy of individuals with CS and CFCS has increased in the last years due to the improvement of patients' care and a more effective prevention of comorbidities, some of the most challenging aspects impacting on everyday living such as growth failure, accelerate senescence and skeletal-muscle defects, still need to be fully understood. This statement underlies the need to improve clinical research protocols with more innovative techniques (multi-omics profiling) in order to better understand the effect of RAS/MAPK pathway hyperactivations on different systems and to define possible personalized treatments.

Detailed Description

Multiomics profiling of the RASopathies

Study Timeline

• Study Start: 2021-04-22
• Primary Completion: 2021-12-22
• Status Verified: 2024-03
• Study First Submitted: 2024-03-19
• Study First Submitted QC: 2024-03-19
• Last Update Submitted: 2024-03-19
• Study First Posted: 2024-03-26
• Last Update Posted: 2024-03-26
• Study Completion: 2026-04-22

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 120

Inclusion Criteria

• Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion Criteria

• Only clinical diagnosis of a RASoapthy

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Case group	Diagnostic test	Multiomics profiling of the RASopathies

Primary Outcome Measures

Name	Time	Method
Metabolomic profile of the RASopathies	3 years	To perform metabolomic profile in all enrolled RASopahty patients

Trial Locations

Locations (1)

Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS; 🇮🇹 Roma, Italy