Clinical Trials Underway through the Multi-Disciplinary Tuberous Sclerosis Program:

Randomized Phase II Trial of RAD001 effect on Neurocognition in TSC

We are 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 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. This clinical trial will test a drug called RAD001, which inhibits the mTOR pathway.

The clinical trial began enrollment in the summer of 2011 at Boston Children’s Hospital 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. The study includes extensive neuropsychological testing which will be performed at baseline, 3 and 6 months. To date thirty-five out of the targeted fifty patients have been enrolled across both sites. Enrollment for this trial will close in June 2014.

Additional information about this trial can be found at

For more information about this trial, please contact: Rachel Friedman at or 617-919-3499.

To download our study brochure, please click here.

Clinical Drug Trial of Everolimus for Refractory Partial-Onset Seizures in Individuals with Tuberous Sclerosis Complex

Investigators at Boston Children's Hospital are looking at the drug Afinitor® (also known as everolimus) to see its effect on seizure frequency and severity in individuals with tuberous sclerosis complex and partial-onset epilepsy. Individuals diagnosed with TSC and uncontrolled seziures between the ages of 2 and 65 years are eligible to participate. This trial involves three phases: baseline, core and extension. Participants in the trial will come to Boston Children's Hospital approximately 11 times during the baseline and core phases. The study visits will include blood draws, laboratory tests and other evaluations such as physical and neurological exams, brain imaging and neuropsychological assessments. At the end of the core phase, patients will be offered inclusion into the extension phase. The expected duration of this trial is 3 years.

Additional information about this trial can be found at

For more information about this study, please contact study coordinator Rachel Friedman at or 617-919-3499.