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

Launched by FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS · Mar 19, 2024

Keywords

ClinConnect Summary

This clinical trial is studying how a specific genetic pathway, known as the RAS/MAPK pathway, affects growth and bone development in people with certain genetic conditions called RASopathies. These conditions include Costello syndrome and Cardio-Facio-Cutaneous syndrome, which can cause a variety of challenges such as growth delays, heart problems, and other physical and mental health issues. The goal of the trial is to better understand these challenges and explore personalized treatment options that could help improve the lives of individuals with these syndromes.

To participate in the trial, individuals must have a confirmed diagnosis of a RASopathy through both clinical evaluation and genetic testing. Unfortunately, those with only a clinical diagnosis are not eligible. Participants can expect to undergo innovative testing methods that look at how their condition affects different body systems. This research aims to provide insights that may lead to better care and treatment options in the future. If you or someone you know has a RASopathy and is interested in contributing to this important research, consider discussing participation with a healthcare provider.

Gender

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Eligibility criteria

• Inclusion Criteria:
• • Clinical and molecularly confirmed diagnosis of a RASopathy
• Exclusion Criteria:
• • Only clinical diagnosis of a RASoapthy