Investigating solid tumors in patients with RASopathies
Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
This study is trying to see how common solid tumors are in people with RASopathies, like Costello Syndrome and Noonan Syndrome, by looking at their tissue samples.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 1 site (Roma) |
| Trial ID | NCT05761314 on ClinicalTrials.gov |
What this trial studies
This study aims to assess the prevalence of solid tumors in patients diagnosed with RASopathies, which include conditions like Costello Syndrome, Cardio-Facio-Cutaneous Syndrome, and Noonan Syndrome. It will utilize Next Generation Sequencing (NGS) to analyze tissue samples from these patients to better understand the molecular mechanisms behind the development of solid tumors. The research is conducted at a single center, focusing on a specific cohort of individuals affected by these genetic syndromes.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a clinically and molecularly confirmed diagnosis of a RASopathy.
Not a fit: Patients who have a clinical diagnosis of RASopathy without molecular characterization may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved cancer screening and treatment strategies for patients with RASopathies.
How similar studies have performed: While there is limited information on similar studies, the approach of using NGS for tumor characterization in genetic syndromes is gaining traction, suggesting potential for success.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: * Clinical diagnosis of RASopathy without molecular characterization
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.