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NCT06331117 Clinical Trial

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

Noonan Syndrome Clinical Trial

— 3776  

Official title:
The Impact of Ras/MAPK Pathway Hyperactivation on Bioenergetic Metabolism and Its Effect on Growth Profile and Bone Metabolism

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT06331117
Other study ID # 3776
Secondary ID
Status Recruiting
Phase N/A
First received
Last updated
Start date April 22, 2021
Est. completion date April 22, 2026

Study information
Verified date March 2024
Source Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Contact Chiara Leoni, MD, PhD
Phone 0039063381344
Email chiara.leoni@policlinicogemelli.it
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial 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.

Description:

Multiomics profiling of the RASopathies

Recruitment information / eligibility
Status Recruiting
Enrollment 120
Est. completion date April 22, 2026
Est. primary completion date December 22, 2021
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - Clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: - Only clinical diagnosis of a RASoapthy

Study Design

Related Conditions & MeSH terms

Intervention

Diagnostic Test:
• Diagnostic test
Multiomics profiling

Locations
Country Name City State
Italy Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS Roma

Sponsors (1)
Lead Sponsor Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome
Type Measure Description Time frame Safety issue
Primary Metabolomic profile of the RASopathies To perform metabolomic profile in all enrolled RASopahty patients 3 years
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