3 resultados
The purpose of this study is to investigate access to clinical care and clinical research for patients with PTEN hamartoma tumor syndrome. This research will entail an anonymous online survey sent to families/caretakers of affected children. The survey will inquire: (1) basic clinical information
This is a signal seeking Phase I/II 6-month, randomized, double-blind placebo-controlled trial of everolimus in individuals, ages 5 to 45 years with a PTEN mutation, with safety and neurocognition as the primary endpoints.
Participant's or a legal guardian will need to sign an informed consent prior
Background:
- PTEN (phosphatase and tensin homolog deleted on chromosome 10) is a tumor suppressor gene whose function is frequently lost through genetic and epigenetic mechanisms in cancer. Loss of PTEN increases activation of the phosphoinositide 3-kinase (PI3K)/Akt/mTOR pathway, which increases