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

Recruitingn/aAges any - 17 YearsAllFondazione I.R.C.C.S. Istituto Neurologico Carlo …
NCT06805734 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

1 site
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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