Trials / Recruiting
RecruitingNCT06331117
Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies
The Impact of Ras/MAPK Pathway Hyperactivation on Bioenergetic Metabolism and Its Effect on Growth Profile and Bone Metabolism
- Status
- Recruiting
- Phase
- N/A
- Study type
- Interventional
- Enrollment
- 120 (estimated)
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Accepted
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.
Detailed description
Multiomics profiling of the RASopathies
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| DIAGNOSTIC_TEST | Diagnostic test | Multiomics profiling |
Timeline
- Start date
- 2021-04-22
- Primary completion
- 2021-12-22
- Completion
- 2026-04-22
- First posted
- 2024-03-26
- Last updated
- 2024-03-26
Locations
1 site across 1 country: Italy
Source: ClinicalTrials.gov record NCT06331117. Inclusion in this directory is not an endorsement.