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Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

NCT06080165 · Status: WITHDRAWN · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL

Last updated 2024-07-10

No results posted yet for this study

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

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

Sponsors & Collaborators

Principal Investigators

  • Antonio Hardan, MD · Stanford University

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
QUADRUPLE
Model
PARALLEL

Eligibility

Min Age
5 Years
Max Age
45 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-07-31
Primary Completion
2028-06-30
Completion
2028-06-30
FDA Drug
Yes

Countries

  • United States

Study Locations

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Entities

Drugs
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06080165 on ClinicalTrials.gov