Clinical Trial: Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC)
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex
Brief Summary: The goal of this study is to learn if the study drug RAD001 can reduced the number of epileptic seizures, and can be taken safety by people who have epilepsy associated with Tuberous Sclerosis Complex.
Detailed Summary: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence at birth of 1 in 6000. This disorder is characterized by the development of benign tumors in multiple organ systems, including the brain. The primary neurological manifestations of TSC are epilepsy, mental retardation and autism. Epilepsy is most common, occurring in 80-90% of patients, and often the seizures are severe, unremitting, and uncontrolled by current anticonvulsant medications. It is generally accepted that the seizures arise from cortical and subcortical tubers and surrounding tissue in the brain. These tubers are caused by mutations in the tumor suppressor genes TSC1 or TSC2. The protein products of these genes, hamartin and tuberin, act as negative regulators of the PI3K/PKB(Akt)/mTOR signaling pathway that regulates cell growth and proliferation Everolimus is an immunosuppressant drug that also inhibits mTOR signaling and is capable of reversing aberrant mTOR-dependent effects that occur when hamartin or tuberin are absent or defective. Thus, we hypothesize that drugs like everolimus may be therapeutically useful for the treatment of refractory epilepsy in patients with TSC.
Sponsor: Children's Hospital Medical Center, Cincinnati
Current Primary Outcome:
- Reduction in Seizure Frequency [ Time Frame: Baseline (Weeks 1-4), Week 16 ]The primary efficacy endpoint was the percentage of participants demonstrating a 50% or greater reduction in seizure frequency at the end of the maintenance phase (weeks 13-16) compared to baseline (weeks 1-4)
- Number of Participants Continuing Study Medication Over Time [ Time Frame: Individual subjects will be assessed every 6 months for up to 48 months; aggregate analysis will take place at end of study ]
Original Primary Outcome: The percentage of subjects with reduction is seizure frequency [ Time Frame: Week 16 ]
Current Secondary Outcome:
Original Secondary Outcome: Number of subjects continuing study medication over time [ Time Frame: Individual subjects will be assessed every 6 months, aggregate analysis will take place at end of study ]
Information By: Children's Hospital Medical Center, Cincinnati
Dates:
Date Received: February 15, 2010
Date Started: January 2010
Date Completion:
Last Updated: February 1, 2017
Last Verified: February 2017
