Longitudinal Study to Identify Developmental Precursors of Autism Spectrum Disorder (ASD) in Patients with Tuberous Sclerosis Complex (TSC)

The aim of the study is to identify early signs of autism spectrum disorder in patients diagnosed with tuberous sclerosis complex. Individuals diagnosed with TSC and are 3-12 months of age are eligible to participate. Participants will be followed until 46 months of age, and study visits will consist of routine EEGs, MRIs, and developmental testing. The trial is now closed to enrollment.

166 patients were enrolled across 5 sites.

For more information regarding this study please visit: clinicaltrials.gov.

For additional information or questions, you can also contact Kira Dies at Kira.Dies@childrens.harvard.edu or 617-919-3009

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

This is an international multi-center study sponsored by Novartis Pharmaceuticals investigating the effect of the drug Afinitor® (also known as everolimus) on seizure frequency and severity in individuals with tuberous sclerosis complex and  epilepsy. Individuals diagnosed with TSC and uncontrolled seziures between the ages of 2 and 65 years are eligible to participate. Study visits include blood draws, laboratory tests and other evaluations such as physical and neurological exams, brain imaging and neuropsychological assessments. This trial is now closed. 

Additional information about this trial can be found at Clinicaltrials.gov

For more information about this study, please contact Kira Dies at Kira.Dies@childrens.harvard.edu or 617-919-3009.

Randomized Phase III Trial of RAD001 in the treatment of patients with Subependymal Giant Cell Astrocytoma (SEGA) associated with TSC

Dr. Sahin served 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 was to demonstrate reduction in SEGA volume. The study included extensive assessments through multiple Children’s Hospital departments (Epilepsy, Neurology, Radiology, Developmental Medicine Center, Clinical Research Center) and lasted for approximately 5 years. This trial has since closed and results are expected to be released. 

Randomized Phase II Trial of RAD001 effect on Neurocognition in TSC

Dr. Sahin led an investigator initiated 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 tested a drug called RAD001, which inhibits the mTOR pathway.

This 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 were eligible for enrollment into this 6 month treatment trial. The study included extensive neuropsychological testing  performed at baseline, 3 and 6 months.  Enrollment for this trial closed in July 2014.

Additional information about this trial can be found at ClinicalTrials.gov

For more information about this study, please contact Kira Dies at Kira.Dies@childrens.harvard.edu or 617-919-3009.