Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies (3776)

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

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

Treatments: Diagnostic Test: Diagnostic test

Study type: Interventional

Funder types: Other

Identifiers

NCT06331117

3776

Details and patient eligibility

About

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.

Full description

Multiomics profiling of the RASopathies

Enrollment: 120 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion criteria

• Only clinical diagnosis of a RASoapthy

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

120 participants in 1 patient group

Case group

Experimental group

Description:

Multiomics profiling of the RASopathies

Treatment:

Diagnostic Test: Diagnostic test