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.
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).
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
Parallel
Everolimus blinded oral capsules
DrugOral capsules given once daily for the first 6 months
Placebo
DrugOral capsules given once daily for the first 6 months
Change from baseline in severity of social skill deficits based on Social Responsiveness Scale (SRS) total score over 6 months.
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)
Change in overall global clinical assessment of social abilities based on the Clinical Global Impressions (CGI) Improvement scale over 6 months
The Clinical Global Impressions (CGI) Improvement rating scale assesses improvement or worsening of symptoms since the start of treatment.
Change from baseline in social skills and processes based on the Stanford Social Dimensions Scale (SSDS)
The Stanford Social Dimensions Scale (SSDS) has been developed to measure an individual's social skills and processes, and is completed by an observer who knows the participant well (e.g. parent, care-giver, partner)
Change from baseline in the Social Communications Sub-scale of the Social Responsiveness Scale (SRS)
The Social Responsiveness Scale (SRS) Social Communication Subscale is part of the SRS questionnaire which is focused on assessment of an individual's ability to communicate and interact with others. It is completed by an observer who knows the participant well (e.g. parent, care-giver, partner)
Change from baseline in Clinical Global Impression (CGI) Severity Scale
The Clinical Global Impression (CGI) Severity Scale is a rating scale designed to assess severity of symptoms.
Change from baseline in Brief Observation of Social Communication Change (BOSCC)
The Brief Observation of Social Communication Change (BOSCC) is an instrument that assesses changes in social communication and other autism related social communication behaviors.
Change from baseline in Neurobehavioral Evaluation Tool (NET) - Social Communication and Interaction Subscale
The Neurobehavioral Evaluation Tool (NET) is designed to incorporate webcam collected performance measures and informant reported survey responses focusing on autism and other neurobehavioral symptoms. We will evaluate the Social Communication and Interaction Subscale.
Change from baseline in Reading the Mind in the Eyes Test (RMET)
The Reading the Mind in the Eyes Test (RMET) is used to evaluate theory of mind, the ability to understand another individual's thoughts.
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