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

NCT06331117 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 120

Last updated 2024-03-26

No results posted yet for this study

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

Interventions

DIAGNOSTIC_TEST

Diagnostic test

Multiomics profiling

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Principal Investigators

  • Chiara Leoni, MD, PhD · Fondazione Policlinico A. Gemelli, IRCCS

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-04-22
Primary Completion
2021-12-22
Completion
2026-04-22

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06331117 on ClinicalTrials.gov