Everolimus for Social Difficulties in PTEN Germline Mutations

This study is testing if everolimus, a medication given as oral capsules, can improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). PHTS is a genetic condition that can cause various health issues, including social difficulties. Researchers want to see if everolimus is safe and effective for adults and children aged 5 to 45 who have PHTS and experience at least moderate social challenges. You would need to have a confirmed diagnosis of PHTS through genetic testing and score above 60 on a social skills assessment. The study will measure changes in social skills over six months. The current status of this study is unclear, and it plans to enroll 60 participants.

Study design
This is a double-blind study, meaning neither you nor your doctor will know if you are receiving everolimus or a placebo (an inactive capsule). It plans to enroll 60 participants.
What's involved
You would take oral capsules once daily for six months. Your social skills will be measured at the start and then monthly for six months.
Compensation
Not stated in the trial record.
Follow-up
Your social skills will be measured for six months after starting treatment.

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NCT07218575

Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations

Not Yet Recruiting
PHASE2Ages 5–45InterventionalTreatment
Boston Children's Hospital
~60 participants
Updated 2026-06-04 on ClinicalTrials.gov
What's tested:Everolimus blinded oral capsulesPlacebo

At a glance

Recruiting sites
0 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Change from baseline in severity of social skill deficits based on Social Responsiveness Scale (SRS) total score over 6 months.
Measured over Baseline, month 1, month 2, month 3, month 4, month 5, month 6
Cowden's Disease
Cowden's Syndrome
Lhermitte-Duclos Disease
Cerebellum Dysplastic Gangliocytoma
Bannayan Zonana Syndrome
Myhre Riley Smith Syndrome
Riley Smith Syndrome
PTEN Hamartoma Tumor Syndrome
Bannayan Riley Ruvalcaba Syndrome
3 sites across 3 states
California1
Massachusetts1
Ohio1

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  • Change from baseline in severity of social skill deficits based on Social Responsiveness Scale (SRS) total score over 6 months.Baseline, month 1, month 2, month 3, month 4, month 5, month 6

    The SRS is a well-validated, reliable, and widely used measure for identifying and measuring impairments in social processing and associated behaviors. It is completed by an observer who knows the participant well (e.g. parent, care-giver, partner)