Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations
Status:
Not yet recruiting
Trial end date:
2028-06-01
Target enrollment:
Participant gender:
Summary
The goal of this study is to examine the safety and treatment effects of sirolimus for
targeting social communication deficits in people with genetic disorders associated with PTEN
germline mutations, which are often referred to as PTEN Harmartoma Tumor Syndrome (PHTS). The
mechanism of sirolimus in the body has shown promise for helping to improve social
communication skills in case reports of people with PHTS. Everolimus, a closely related
compound, also showed benefits in social communication skills in a previous pilot trial in
people with PHTS. This is a 6 month double-blind trial followed by at 6 month open label
extension trial.