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PTEN Hamartoma Syndrome clinical trials

View clinical trials related to PTEN Hamartoma Syndrome.

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NCT ID: NCT06080165 Not yet recruiting - Clinical trials for PTEN Hamartoma Tumor Syndrome

Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

Start date: July 2024
Phase: Phase 1/Phase 2
Study type: Interventional

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.

NCT ID: NCT04094675 Active, not recruiting - Clinical trials for PTEN Hamartoma Tumor Syndrome

Sirolimus for Cowden Syndrome With Colon Polyposis

Start date: September 16, 2019
Phase: Phase 2
Study type: Interventional

Colon polyposis (the presence of multiple colon polyps) is very common with Cowden syndrome, as over 60% of patients have 50 or more polyps. In a previous clinical trial, some participants had reduction in the number of colon polyps with the use of the medication sirolimus for a very short time period. This study is investigating sirolimus and its effect on the number of colon polyps in patients with Cowden syndrome and polyposis over a 1 year period.