Status:

NOT_YET_RECRUITING

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

Lead Sponsor:

Boston Children's Hospital

Conditions:

Cowden's Disease

Cowden's Syndrome

Eligibility:

All Genders

5-45 years

Phase:

PHASE2

PHASE3

Brief Summary

The goal of this study is to examine the safety and treatment effects of everolimus in adults and children with PTEN Hamartoma Tumor Syndrome (PHTS) who experience social difficulties. The study will ...

Eligibility Criteria

Inclusion

  • Diagnosis of PTEN Harmartoma Tumor Syndrom (PHTS), confirmed by genetic testing (the testing may be done as part of study screening)
  • Experiences at least moderate levels of social difficulties, based on SRS T score \> 60 (measured during screening Have at least a moderate impairment in social abilities, based on SRS score during study screening
  • Fluent in English
  • Females of child-bearing potential must have no plans to become pregnant and be using contraception during the study (if sexually active).
  • Availability of parent, care-giver, partner or other suitable individual who can provide observation reports and provide transportation to attend clinic visits
  • Adequate liver, kidney and bone-marrow function (checked during screening)
  • Medically stable
  • No plans to change school, behavioral therapies, home services or speech therapy during the study period
  • Ability to swallow medicine in pill form

Exclusion

  • Ongoing or planned treatment with any medication with known or possible ant-mTOR activity (e.g. sirolimus), or strong inducers or inhibitors of CYP3A, CYP2D6, P450 or PgP (e.g. cyclosporine, ketoconazole, erythromycin, rifampin, phenytoin, phenobarbital) or ACE inhibitors
  • Chronic treatment with systemic corticosteroids or other immunosuppressive treatments (topical or inhaled corticosteroids are allowed).
  • Major surgery or any anti-cancer therapies (including radiotherapy) within 4 weeks of enrollment
  • Neurosurgery within 6 months of enrollment
  • Uncontrolled diabetes defined as HbA1c \>8% despite treatment
  • Uncontrolled hyperlipidemia (defined as fasting serum cholesterol \> 300 mg/dL OR \>7.75 mmol/L AND fasting triglycerides \> 2.5 x ULN, assessed during screening)
  • History of Hepatitis B, Hepatitis C or HIV
  • Participation in a clinical trial in the 60 days prior to study entry
  • Known intolerance or hypersensitivity to everolimus or other rapamycin analogs (e.g. sirolimus, temsirolimus)
  • Patients who have a history of another primary malignancy, with the exceptions of non-melanoma skin cancer, and carcinoma in situ of the cervix, uteri, or breast from with the patient has been disease free for \> 3 years

Key Trial Info

Start Date :

April 1 2026

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

April 1 2030

Estimated Enrollment :

60 Patients enrolled

Trial Details

Trial ID

NCT07218575

Start Date

April 1 2026

End Date

April 1 2030

Last Update

October 20 2025

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