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Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants

RECRUITINGSponsored by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Actively Recruiting
SponsorFondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Started2024-08-01
Est. completion2029-07
Eligibility
Healthy vol.Accepted
View on ClinicalTrials.gov →

NCT06805734

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

Healthy volunteers accepted
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

Conditions2

CancerPTEN Hamartoma Syndrome

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