NCT07218575Not yet recruitingPhase 2/3
Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
A Randomized, Placebo Controlled Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
Source: ClinicalTrials.gov · Last updated 4 Jun 2026
Brief summary (registry, in English)
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 measure if everolimus can safely improve social abilities and functioning in this study population. PTEN Hamartoma Tumor Syndrome (PHTS) is a genetic condition that results from alteration (germline variant) to the PTEN gene. It is associated with a wide range of symptoms and characteristics, which vary from individual to individual. These include symptoms such as harmatomas (non-cancerous lesions), an increased risk of certain types of cancer, having a larger than average head, and abnormalities in blood vessels. Some people also have neurobehavioral problems including social difficulties. It is estimated approximately 25% (1 in 4) of people with PHTS meet the criteria for an autism diagnosis. The study lasts for one year. In the first 6 months half of participants will receive everolimus as a once daily oral tablet, and half will receive placebo tablets. For the second 6 months all participants will receive everolimus. Visits to the study clinic are required at the start, month 3, month 6, month 9 and month 12, with phone calls or virtual visits in between. Assessments include questionnaires, blood tests and urine tests, physical and neurological exams, and vital signs. Everolimus is an existing FDA approved medication used to treat other conditions, including a genetic condition called tuberous sclerosis complex which has some similarities to PHTS, and several types of cancer.
- Status (registry)
- Not yet recruiting
- Phase (registry)
- Phase 2/3
- Study type
- Interventional
- Enrollment
- 60 (estimated)
- First submitted
- 15 Oct 2025
- Start date
- 1 Sept 2026
- Primary completion date
- Sept 2030
- Lead sponsor
- Boston Children's Hospital
- Diseases
- Autism, Childhood cancers
- NCT number
- NCT07218575
What you commit to
- Study type: Interventional · Phase 2/3
- Planned participants: 60
- From 1 Sept 2026 to the primary completion date, Sept 2030
- 3 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- 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).
- Participation in a clinical trial in the 60 days prior to study entry
Other illness
- Major surgery or any anti-cancer therapies (including radiotherapy) within 4 weeks of enrollment
- History of Hepatitis B, Hepatitis C or HIV
- Known intolerance or hypersensitivity to everolimus or other rapamycin analogs (e.g. sirolimus, temsirolimus)
Lab values
- 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)
Age
- 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
Other
- Neurosurgery within 6 months of enrollment
Who the study is looking for
- 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
Age in the registry: 5 years to 45 years · Sex: All · Does not accept healthy volunteers
Sites (3)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Boston Children's Hospital Coordinator of this site? Confirm its status | Boston | United States | Unknown status |
| Cleveland Clinic Coordinator of this site? Confirm its status | Cleveland | United States | Unknown status |
| Stanford University Coordinator of this site? Confirm its status | Stanford | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.