RecruitingNCT06805734
Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants - Observational Study
Sponsor
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Enrollment
50 participants
Start Date
Aug 1, 2024
Study Type
OBSERVATIONAL
Conditions
Summary
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.
Eligibility
Max Age: 17 Years
Inclusion Criteria4
- 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 Criteria3
- 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
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06805734