New Treatment for Refractory Epilepsy

Tuberous sclerosis complex patients may be able to control seizures with everolimus

/ Author:  / Reviewed by: Joseph V. Madia, MD Beth Bolt, RPh

(RxWiki News) Trying to manage seizures in patients with refractory epilepsy — a type of epilepsy where medicine no longer works to control seizures — can be very challenging, but there may be renewed hope.

A recent study found that the medication everolimus reduced the frequency and length of seizures for patients who developed refractory epilepsy as a complication brought on by tuberous sclerosis complex — a rare, genetic disease that causes non-cancerous tumors to grow all over the body.

The authors noted that while these results are promising, more and larger clinical studies are needed to confirm the study's findings. 

"Speak with your doctor about treatment options for refractory epilepsy."

This study was led by Darcy Krueger, PhD, in the Division of Child Neurology, Cincinnati Children’s Hospital Medical Center. The research team examined whether everolimus successfully controlled seizures in patients with tuberous sclerosis complex (TSC).

As a result of TSC, some patients may develop epilepsy — a brain condition that causes seizures — and eventually refractory epilepsy (where medicines are no longer effective in controlling seizures).

The study included 20 patients who were at least 2 years old, had a confirmed diagnosis of TSC, as well as refractory epilepsy. Study participants were treated with a 5 mg dose of everolimus per day for 4 weeks and, for the following eight weeks, were given a dose between 5-15 mg per day. Patients or parents of patients were asked to report the frequency and length of seizures over the study period.

Researchers looked at frequency and length of seizures to determine how successful the treatment was. Success was defined as a 50 percent or greater reduction in seizure frequency. Partial success was defined as a 25-50 percent reduction in seizure frequency. Researchers also looked at the treatments effect on behavior and quality of life using two separate surveys.

Study participants were between 2-21 years old with a median age of 8 years. The researchers found that of the 20 patients, 12 had success with the treatment and 3 had partial success. After the 12 week treatment period, 20 percent of patients had no seizures, and 35 percent had at least a 90 percent reduction in the number of seizures they had.

Improvement was seen in length of seizures, with the median length of seizures decreasing by 70 percent. A significant improvement was also seen in parent-reported behavior and overall quality of life for patients.

The study authors noted that TSC patients with epilepsy, especially refractory epilepsy, are at high risk for cognitive impairment and developmental disorders, so finding effective treatment is very important. They concluded that while more clinical studies are needed to confirm their findings, everolimus looks to be a promising treatment option for TSC patients with refractory epilepsy.

Currently, Dr. Krueger and colleagues are working on a larger phase III trial of the medication. The effort, which involves medical centers from around the world and an estimated 345 patients, is expected to be completed in 2015.

Dr. Krueger told dailyRx News, “In addition to this follow-up Phase III clinical trial, we are working on trials investigating behavior, learning and autism in tuberous sclerosis [patients].”

This study was published on September 10 in Annals of Neurology.

This study was funded by Novartis Pharmaceuticals, the Clack Foundation, and Cincinnati Children’s Hospital.

Some of the study authors reported potential conflicts or interest with companies including Novartis, Pfizer, and Lundbeck.

Additional reporting on this story provided by Don Rauf.

Review Date: 
September 14, 2013
Last Updated:
December 30, 2013