Observational study on cancer risk in children with PTEN gene mutations
Official title: Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants - Observational Study
Run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · NCT06805734 · Data updated 2026-11-12
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 |
|---|---|
| Ages | Any age to 17 Years |
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Academic / other |
| Locations | 1 site (Milan) |
| Status | Recruiting |
| Started | August 1, 2024 |
| Main results expected | July 2029 |
| Study ends | July 2029 |
| Registry record updated | February 12, 2026 |
| Trial ID | NCT06805734 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include pediatric patients under 18 years old with confirmed PTEN pathogenic variants and their affected relatives.
✕Probably not a fit
Patients with non-pathogenic PTEN variants or those who refuse to participate in the study will not benefit from this research.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy Recruiting
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Using video capsules to examine patients with Lynch Syndrome
This study is testing whether video capsules can be a good alternative to regular colonoscopies for people with Lynch Syndrome to help improve cancer screening.
-
Natural history and genotype-phenotype patterns in mitochondrial leukoencephalopathies
This study looks at how mitochondrial leukoencephalopathies develop over time and how genetic differences relate to what patients experience.
-
A real-world look at trigeminal autonomic cephalalgias in Italy
This study follows adults with TACs like cluster headache and related conditions in routine care to see how treatments work and what factors influence outcomes over time.
-
Patient experiences during treatment for IDH‑mutant grade 2 gliomas: vorasidenib, radiotherapy, or observation
This project will test how adults with IDH‑mutant grade 2 gliomas feel—their quality of life, treatment symptoms, and anxiety—when they receive vorasidenib, radiotherapy, or active surveillance.
-
Nerve function and structure in CMT, anti‑MAG neuropathy, and CIDP
This project will test nerve‑conduction, axonal‑excitability, skin biopsy, and ultrasound measures in adults with CMT, CIDP, or anti‑MAG neuropathy to see if they better describe nerve function and structure.
-
Gut barrier and gut microbes in children with autism
This trial will test whether a one-month course of postbiotic supplements can improve gut symptoms and behavior in children with autism aged 3–8.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.