New study tracks cancer risk in kids with rare gene mutation
NCT ID NCT06805734
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study follows 50 children with PTEN gene mutations to better understand their risk of developing tumors. Participants will have yearly check-ups including blood tests, ultrasounds, and skin exams for 5 years. The goal is to create better monitoring guidelines for these children and compare their cancer risk to affected adult relatives.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could lead to better cancer screening guidelines and earlier detection for children with PTEN mutations.
- What could go wrong
- This is an observational study, not a treatment trial, so it won't directly improve health. It may not find clear patterns due to the small number of participants (50).
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 50 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Aug 2024
- Expected to finish
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Jul 2029
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Pediatric patients (\<18 years of age at enrollment) with pathogenic variants of PTEN genes (gene sequence variant, intragenic deletion/duplication, whole gene deletion) Carrier parents data would also be collected
- Ages
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Up to 17 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Fondazione IRCCS Istituto Neurologico Carlo Besta
RECRUITINGMilan, 20133, Italy