NCT06080165

Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

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

• Status: Withdrawn
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 0 (actual)
• Sponsor: Stanford University · Academic / Other
• Sex: All
• Age: 5 Years – 45 Years
• Healthy volunteers: Not accepted

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.

Conditions

• PTEN Gene Mutation
• PTEN Hamartoma Tumor Syndrome
• PTEN Hamartoma Syndrome

Interventions

Type	Name	Description
DRUG	Sirolimus	Experimental: Sirolimus Participants that are 5 to 12.99 years old will start at 1 mg/m2/dose. Participants that are 13 to 45.99 years old and \< 39.99 kg in weight will also start on 1 mg/day. Participants that are 13 to 45.99 years old and \> 40 kg in weight will start on 2 mg/day. The target blood level will be 5-15 ng/ml with dose adjustment based on clinical labs of sirolimus levels. The target blood level will be 5-15 ng/ml with dose adjustment based on sirolimus levels obtained every 2 to 3 weeks after every dose change.
DRUG	Placebo	matching placebo

Timeline

• Start date: 2024-07-01
• Primary completion: 2028-06-01
• Completion: 2028-06-01
• First posted: 2023-10-12
• Last updated: 2024-07-10

Locations

3 sites across 1 country: United States

Regulatory

• FDA-regulated drug study