Understanding the impact of RAS/MAPK pathway issues on growth and bone health in RASopathies
The Impact of Ras/MAPK Pathway Hyperactivation on Bioenergetic Metabolism and Its Effect on Growth Profile and Bone Metabolism
This study is testing how problems with a specific signaling pathway affect growth and bone health in people with RASopathies like Costello syndrome and cardio-facio-cutaneous syndrome.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 120 (estimated) |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 1 site (Roma) |
| Trial ID | NCT06331117 on ClinicalTrials.gov |
What this trial studies
This study investigates the effects of hyperactivation of the RAS/MAPK signaling pathway on growth and bone profiles in patients with RASopathies, including Costello syndrome and cardio-facio-cutaneous syndrome. It employs multiomics profiling to gather comprehensive data on these conditions, which are characterized by various systemic issues such as growth delays and skeletal anomalies. The goal is to enhance understanding of the underlying mechanisms affecting these patients and improve clinical care protocols.
Who should consider this trial
Good fit: Ideal candidates are individuals with a clinically and molecularly confirmed diagnosis of a RASopathy.
Not a fit: Patients with only a clinical diagnosis of a RASopathy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better management strategies for growth and skeletal issues in patients with RASopathies.
How similar studies have performed: While there is ongoing research in RASopathies, this specific multiomics approach is relatively novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: * Only clinical diagnosis of a RASoapthy
Where this trial is running
Roma
- Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS — Roma, Italy (Recruiting)
Study contacts
- Principal investigator: Chiara Leoni, MD, PhD — Fondazione Policlinico A. Gemelli, IRCCS
- Study coordinator: Chiara Leoni, MD, PhD
- Email: chiara.leoni@policlinicogemelli.it
- Phone: 0039063381344
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.