Randomized Phase II Trial of RAD001 Effect on Neurocognition in Tuberous Sclerosis Complex (TSC)

Dr. Sahin is currently 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 mis-wired 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 is investigating a drug called RAD001, which inhibits the mTOR pathway.

The clinical trial began enrollment in August 2011 at Boston Children’s Hospital 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 2 years. The study includes extensive neuropsychological testing which will be performed at baseline, 3 and 6 months