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Drug Shows Dramatic Reduction in Seizures In Patients with Tuberous Sclerosis Complex
Date:7/16/2013

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The study included 20 patients who were treated with everolimus. Their median age was 8. Half of the patients were enrolled at Cincinnati Children's and half at Texas Children's Hospital in Houston.

The researchers found that everolimus reduced seizure frequency by at least 50 percent in 12 of the 20 participants.  The drug also reduced seizures in 17 of the 20 TSC patients by a median rate of 73 percent. Four patients were free of seizures and seven had at least a 90 percent reduction in seizure frequency.

Overall quality of life, as reported by the participants' parents, also improved.  Parents reported several positive changes, including attention, behavior, social interaction and physical restrictions.

Studies in the 1990s traced the cause of TSC to defects in two genes, TSC1 and TSC2.  When these genes malfunction, the cell has higher activity of mTOR, a protein known to trigger uncontrolled tumor cell and blood vessel growth.  Everolimus shrinks tumors by inhibiting mTORC1, and it appears to reduce seizures in TSC patients in the same way.

"It is unclear whether the benefit of everolimus in treating epilepsy might extend beyond that observed in TSC," says Dr. Krueger.  "mTORC1 has been implicated in genetic and neurodevelopmental syndromes in which epilepsy is prominent and in more common types of epilepsy.  Additional clinical trials might tell us whether everolimus would benefit patients with epilepsy not related to TSC."

Funding for the study was provided by Novartis Pharmaceuticals and the Clack Foundation.

About Cincinnati Children's

Cincinnati Children's Hospital Medical Center ranks third in the nation among all Honor Roll hospitals in U.S.News and World Report's 2013 Best Children's Hospitals ranking. It is ranked #1 for cancer and in the top 10 for nine of 10 pediatric specialties. Cincinnati Children's is one of the top two r
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SOURCE Cincinnati Children's Hospital Medical Center
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