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Clinical Trials in Italy / NCT06805734
Recruiting Observational

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

NCT06805734 · tracked via the Priya Life Science Italy tracker
Sponsor
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Phase
Observational
Started
2024-08-01
Last updated
2026-02-12

Condition(s) studied

PTEN Hamartoma Syndrome

Study 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

Sex
ALL
Min age
—
Max age
17 Years
Healthy volunteers
No
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

Primary outcome measure(s)

  • Rate of tumor onset in the pediatric subjects with PTEN pathogenic variants — 5 years
    In the 5 years follow-up the subjects must complete annually the provided follow-up. Most of the exams are performed in order to exclude the onset of PTEN-related tumors, in particular: * blood tests: thyroid function, renal function, hepatic function, blood count cell exam: screening for thyroid, kidney, liver and intestinal tumors * fecal occult blood (FOB): screening for colorectal cancer and polyps * dermatological evaluation (at the diagnosis, further evaluations if clinically needed) * thyroid US: screening for thyroid tumors * abdominal US: screening for kidney, liver and intestinal tumors * clinical follow-up (performed either by a geneticist, a pediatrician or a pediatric neurologist): exams evaluation and global monitoring. The oncological risk of the patients would be estimated basing on the number of patients who will develop a tumor, benign or malignant, in the 5-years follow-up.
  • Rate of tumor onset in the adult relatives of the pediatric subjects also carrying the PTEN pathogenic variant — 5 years
    The oncological risk of tumor onset in the pediatric cohort will be compared with that of relatives carrying pathogenic variants. Pediatric patients will undergo annual follow-up for the 5 years of the study. Within the same time frame, adult relatives of the index case carrying the same PTEN variant will also be monitored in order to compare oncological risk in adult and pediatric populations and to evaluate phenotypic differences across different stages of life.

Trial sites (1)

FacilityCityRegionStatus
Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06805734 on ClinicalTrials.gov ↗ ← All trials in Italy