Actively Recruiting
Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
Led by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Updated on 2026-02-12
50
Participants Needed
1
Research Sites
256 weeks
Total Duration
On this page
Sponsors
F
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Lead Sponsor
A
Azienda Ospedaliera Sant'Anna
Collaborating Sponsor
AI-Summary
What this Trial Is About
This is an observational study in pediatric patientis carryng PTEN pathogenic variants aimed to define oncological risk in children and provide a deeper insight of the clinical course, establishing an updated follow-up protocol.
CONDITIONS
Official Title
Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Confirmed PTEN pathogenic variants (class 4/5 SNV, gene deletion, intragenic duplication/deletion)
- Pediatric patients under 18 years old and their affected relatives of any gender and ethnicity
- Legal representative agrees to follow the screening protocol
- Informed consent signed by the legal representative
You will not qualify if you...
- Refusal to undergo protocol assessment exams at diagnosis
- PTEN variants classified as non-pathogenic (variants of uncertain significance or benign/likely benign)
- No signed informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy, 20133
Actively Recruiting
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here