Recent Articles about the Sahin Laboratory:
Brain connectivity and TSC (Children's Hospital Boston)
Tuberous sclerosis linked to brain cell migration (Simons Foundation Autism Research Initiative News)
Can drugs improve cognitive deficits in developmental disorders? (Children's Hospital Boston News Room)
Clinical Trials Underway through the Multi-Disciplinary Tuberous Sclerosis Program:
I. Randomized Phase II Trial of RAD001 effect on Neurocognition in TSC
We will be conducting a phase II clinical trial of a drug that may reduce learning deficits and autistic symptoms in patients with TSC. Research by the Sahin Laboratory and others has revealed that brain circuits are miswired in TSC. Because of a hyperactive cell growth pathway called mTOR, nerve fibers grow in a disorganized manner with structural abnormalities. Inhibition of mTOR can reverse some of these abnormalities, as well as functional brain defects such as seizures and learning deficits in mice. The clinical trial will test a drug called RAD001, which inhibits the mTOR pathway.
The clinical trial is expected to begin enrollment in the spring of 2011 at Children’s Hospital Boston as the lead site and in collaboration with Cincinnati Children’s Hospital Medical Center. Individuals clinically diagnosed with TSC between the ages of 6-21 years with an IQ greater than or equal to 60 are eligible to participate. A total of 50 individuals will be enrolled, 25 from each hospital, within the next 3 years. The study includes extensive neuropsychological testing which will be performed at baseline, 3 and 6 months.
II. Randomized Phase III Trial of RAD001 in the treatment of patients with Subependymal Giant Cell Astrocytoma (SEGA) associated with TSC
Dr. Sahin serves as a Principal Investigator for a Novartis-sponsored clinical trial utilizing RAD001 in the treatment of Subependymal Giant Cell Astrocytoma (SEGA) associated with TSC. The primary aim of the study is to demonstrate reduction in SEGA volume. The study includes extensive assessments through multiple Children’s Hospital departments (Epilepsy, Neurology, Radiology, Developmental Medicine Center, Clinical Research Center) with an expected study duration of 5 years. Enrollment for this trial is now closed.
