Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
Recruiting
Observational Study
PTEN Hamartoma Syndrome
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- Up to 17
- Sex
- Any
- Study type
- Observational
- Participants needed
- 50 (estimated)
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Other
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About This Trial
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.
Trial Locations
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Eligibility 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 s…
Contacts
No contact information available.