Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

PTEN Hamartoma Tumor Syndrome Clinical Trial

Official title: A Randomized Controlled Double-Blind Trial of Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

Status Not yet recruiting

Clinical Trial 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.

Clinical Trial Description

n/a

Related Conditions & MeSH terms

• Hamartoma Syndrome, Multiple
• Neoplasms
• PTEN Gene Mutation
• PTEN Hamartoma Syndrome
• PTEN Hamartoma Tumor Syndrome
• Syndrome

• NCT number: NCT06080165
• Study type: Interventional
• Source: Stanford University
• Contact: John Hegarty, PhD
• Phone: (650) 736-1235
• Email: hegartyj@stanford.edu
• Status: Not yet recruiting
• Phase: Phase 1/Phase 2
• Start date: July 2024
• Completion date: June 2028