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

NCT06331117 | Recruiting

• 1 other identifier: 3776
• Study Type: interventional
• Target: 120
• Locations: 1 country
• Sites: 1

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.

Conditions

RASopathy; Costello Syndrome; Noonan Syndrome; Cardio-Facio-Cutaneous Syndrome

Outcome Measures

Primary Outcomes (1)

• Metabolomic profile of the RASopathies

  To perform metabolomic profile in all enrolled RASopahty patients

  3 years

Study Arms (1)

Case group

EXPERIMENTAL

Multiomics profiling of the RASopathies

Diagnostic Test: Diagnostic test

Interventions

Diagnostic test DIAGNOSTIC_TEST

Multiomics profiling

Case group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (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:

• Only clinical diagnosis of a RASoapthy

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

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 Syndrome; Noonan Syndrome; Cardiofaciocutaneous syndrome

Interventions

Diagnostic Tests, Routine

Condition Hierarchy (Ancestors)

Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis

Study Officials

• Chiara Leoni, MD, PhD

  Fondazione Policlinico A. Gemelli, IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chiara Leoni, MD, PhD

CONTACT

0039063381344; chiara.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: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD

Study Record Dates

• First Submitted: March 19, 2024
• First Posted: March 26, 2024
• Study Start: April 22, 2021
• Primary Completion: December 22, 2021
• Study Completion: April 22, 2026
• Last Updated: March 26, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)