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Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT06080165
Other study ID # IRB-72157
Secondary ID
Status Not yet recruiting
Phase Phase 1/Phase 2
First received
Last updated
Start date July 2024
Est. completion date June 2028

Study information

Verified date October 2023
Source Stanford University
Contact John Hegarty, PhD
Phone (650) 736-1235
Email hegartyj@stanford.edu
Is FDA regulated No
Health authority
Study type Interventional

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.


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Study Design


Intervention

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.
Placebo
matching placebo

Locations

Country Name City State
United States Boston Children's Hospital Boston Massachusetts
United States Cleveland Clinic Cleveland Ohio
United States Stanford University Stanford California

Sponsors (1)

Lead Sponsor Collaborator
Stanford University

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Other Change from baseline on Brief Observation of Social Communication Change (BOSCC) Month 6
Other Change from baseline on Neurobehavioral Evaluation Tool (NET) Social Communication and Interaction subscale Month 3, Month 6
Other Change from baseline on the Reading the Mind in the Eyes Test (RMET) Month 6
Other Change from baseline on Purdue Pegboard (PP) Test Month 6
Other Change from baseline on parent rated Dimensional Assessment of Restricted/Repetitive Behaviors (DARB) Month 3, Month 6
Other Change from baseline on Vineland Adaptive Behavior Scales (VABS-III) Month 3, Month 6
Other Change from baseline on Wide Range Assessment of Memory and Learning-2 (WRAML-2) Month 6
Other Change from baseline on Clinical Global Impression Improvement (CGI-I) Scale changes during treatment. Month 1, Month 2, Month 3, Month 4, Month 5, Month 6
Other Change from baseline on parent reported Child or Adult Behavioral Checklist Month 3, Month 6
Other Change from baseline on complete blood count (CBC) with differential as measured by peripheral blood Month 1, Month 3, Month 5, Month 6
Other Change from baseline on comprehensive metabolic panel as measured by peripheral blood Month 1, Month 3, Month 5, Month 6
Other Change from baseline on lipid profile as measured by peripheral blood. Month 1, Month 3, Month 5, Month 6
Primary Change from baseline in parent rated Social Responsiveness Scale, Second Edition Total Scores (SRS-2) total scores during treatment. Month 1, Month 2, Month 3, Month 4, Month 5, Month 6
Secondary Clinical Global Impression Improvement (CGI-I) Scale changes during treatment. Month 1, Month 2, Month 3, Month 4, Month 5, Month 6
Secondary Change from baseline on parent rated Stanford Social Dimensions Scale (SSDS) Month 1, Month 2, Month 3, Month 4, Month 5, Month 6
See also
  Status Clinical Trial Phase
Active, not recruiting NCT05671107 - Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Patients
Active, not recruiting NCT04094675 - Sirolimus for Cowden Syndrome With Colon Polyposis Phase 2
Not yet recruiting NCT03630523 - Response of Immune System to Flu Vaccination in PHTS N/A
Recruiting NCT06462430 - PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry
Recruiting NCT02461446 - Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
Completed NCT02991807 - RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome Phase 1/Phase 2
Recruiting NCT03050268 - Familial Investigations of Childhood Cancer Predisposition