Observational study on cancer risk in children with PTEN gene mutations
Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants - Observational Study
This study is trying to understand the cancer risks in children with PTEN gene mutations to help improve how they are monitored and treated.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | N/A to 17 Years |
| Sex | All |
| Sponsor | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Academic / other |
| Locations | 1 site (Milan) |
| Trial ID | NCT06805734 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on pediatric patients with pathogenic variants of the PTEN gene, aiming to evaluate their oncological risk and provide insights into the clinical course of PTEN Hamartoma Syndrome (PTHS). The study will collect data from PTEN mutated patients and their relatives across various centers in Italy, establishing a comprehensive follow-up protocol that addresses the variability in current screening practices. By analyzing the clinical manifestations and potential cancer risks associated with PTEN mutations, the study seeks to enhance understanding and management of this condition in children. The findings may lead to improved screening and monitoring strategies for affected individuals.
Who should consider this trial
Good fit: Ideal candidates include pediatric patients under 18 years old with confirmed PTEN pathogenic variants and their affected relatives.
Not a fit: Patients with non-pathogenic PTEN variants or those who refuse to participate in the study will not benefit from this research.
Why it matters
Potential benefit: If successful, this study could lead to better screening protocols and management strategies for children with PTEN mutations, potentially reducing their cancer risk.
How similar studies have performed: While there is limited data on similar studies specifically targeting PTEN-related conditions, the approach of evaluating oncological risks in genetic syndromes has shown promise in other contexts.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * PTEN pathogenic variants (class 4/5 SNV, gene deletion, intragenic duplication/deletion) * Pediatric patients (\<18 years old) and their affected relatives, male/female, all ethnicities * The legal representative must agree to follow the screening protocol * Informed consent signed by the legal representative Exclusion Criteria: * Refuse to undergo the exams of the protocol assessment at the diagnosis * PTEN non-pathogenic variants (VOUS or benign/likely benign vatiants) * No signed informed consent
Where this trial is running
Milan
- Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan, Italy (Recruiting)
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.