WithdrawnPhase 1/2

Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

Stopped: Investigator decided not to proceed with the trial.

United States0Started 2024-07

Plain-language 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.

Who can participate

Age range5 Years – 45 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Inclusion Criteria: All participants will meet the following selection criteria: * Male or female outpatients between 5.00 and 45.99 years of age * PHTS confirmed by genetic testing; * Fluent in English * at least moderate severity of social skill deficits based on a social responsiveness scale t score ≥ 60 * Stable psychotropic and anti-epileptic medications for at least 4 weeks with the exception of fluoxetine which should be stable for at least 8 weeks * Adequate Liver function (SGOT, SGPT, TBili, Alk Phos all\<3x normal); HCT\>27%; WBC \> 3.0, ANC \>1,500, and platelets \>100,000 * adequate renal function with a GFR ≥ 50 ml/min/m2 as determined by the Schwartz Formula for children and MDRD for adults (www.nkdep.nih.gov/professionals/gfr\_calculators/index) * Negative urine pregnancy test for females and no plans to become pregnant or conceive a child while participating in the study. The effects of mTOR inhibitors on the developing fetus at the doses used in this study are unknown. For this reason, women of child-bearing potential and men must agree to use adequate contraception prior to study entry and for the duration of the study. Because of the possibility of drug interactions and the potential effect of female hormones on the growth of kidney angiomyolipomas and lymphangioleiomyomatosis, estrogen-containing oral contraceptives are not recommended in women enrolled in this study, so an effective non-estrogen or barrier method of contraception mu…

What they're measuring

Change from baseline in parent rated Social Responsiveness Scale, Second Edition Total Scores (SRS-2) total scores during treatment.

Timeframe: Month 1, Month 2, Month 3, Month 4, Month 5, Month 6

Trial details

NCT IDNCT06080165

SponsorStanford University

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2028-06