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.
Study Type
INTERVENTIONAL
Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
QUADRUPLE
Enrollment
60
Oral capsules given once daily for the first 6 months
Oral 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)
Time frame: Baseline, month 1, month 2, month 3, month 4, month 5, month 6
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.
Time frame: Month 1, month 2, month 3, month 4, month 5, month 6
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)
Time frame: Baseline, month 1, month 2, month 3, month 4, month 5, month 6
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)
Time frame: Baseline, month 1, month 2, month 3, month 4, month 5, month 6
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.