Sirolimus for PTEN Syndrome

Recruiting in Palo Alto (17 mi)

+2 other locations

Overseen byAntonio Hardan, MD

Age: < 65

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 1 & 2

Waitlist Available

Sponsor: Stanford University

Breakthrough Therapy

Approved in 4 Jurisdictions

Trial Summary

What is the purpose of this trial?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.

Eligibility Criteria

This trial is for people aged 5 to 45 with PTEN Hamartoma Tumor Syndrome confirmed by genetic testing. They must speak English, have moderate social skill deficits, stable medication use, and proper liver and kidney function. Women of childbearing potential and men must agree to use non-estrogen contraception.

Inclusion Criteria

There are no modifications foreseen for student placement in minors.

I am not pregnant, do not plan to become pregnant, and agree to use non-estrogen birth control.

I can complete required tests and provide samples for the study.

+11 more

Exclusion Criteria

I do not have severe illnesses like heart disease or chronic malnutrition.

I haven't taken drugs affecting mTOR or strong CYP3A modifiers in the last 3 months.

I do not have an active infection.

+5 more

Participant Groups

The study tests sirolimus against a placebo over six months to see if it improves social communication in those with PTEN mutations. After the double-blind phase, there's an open-label extension where everyone receives sirolimus.

2Treatment groups

Experimental Treatment

Placebo Group

Group I: SirolimusExperimental Treatment1 Intervention

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 sirolimus levels obtained every 2 to 3 weeks after every dose change.

Group II: PlaceboPlacebo Group1 Intervention

matching placebo

Sirolimus is already approved in United States, European Union, Canada, Japan for the following indications:

🇺🇸 Approved in United States as Rapamune for: