RecruitingNot Applicable

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

Italy50 participantsStarted 2024-08-01

Plain-language 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.

Who can participate

Age range17 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Rate of tumor onset in the pediatric subjects with PTEN pathogenic variants

Timeframe: 5 years

Rate of tumor onset in the adult relatives of the pediatric subjects also carrying the PTEN pathogenic variant

Timeframe: 5 years

Trial details

NCT IDNCT06805734

SponsorFondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2029-07

View on ClinicalTrials.gov More PTEN Hamartoma Syndrome trials