Drug shows big benefits in children with rare tumor disease

Children with the disease tuberous sclerosis can have tumors in various body organs including the brain, eyes, heart, kidney, skin and lungs. The condition is incurable, and treatment often relies on surgery to remove the tumors. But a medication already approved to treat kidney cancer has shown remarkable success in shrinking tumors in children with the disease, researchers said Wednesday.

In a study published in the New England Journal of Medicine, researchers described their success with the drug everolimus, which is sold under the brand name Afinitor. The medication works by slowing down the mTOR protein that is overactive in people with the genetic disorder -- about 40,000 Americans. Among 28 patients who received the drug, researchers found that brain tumors shrunk by 30% or more. Nearly one-third of the children experienced a reduction of 50% or more of tumor size and none of the patients developed a new tumor while taking the medication. In addition, patients experienced an 86% reduction in seizures, another neurological problem associated with the disease.

Based on the data, the Food and Drug Administration last week granted accelerated approval of the drug for use in patients with these types of brain tumors, according to the manufacturer of the medication, Novartis. Studies will continue on the medication, however. The drug can cause a range of side effects, some of which can be serious.

“Children and teens may not only avoid surgery and have improved seizure control, but they also may see improvement in other aspects of this disease, including a reduction or even elimination of hydrocephalus--a buildup of fluid inside the skull leading to increased intracranial pressure,” said the senior author of the study, Dr. David Franz, of Cincinnati Children’s Hospital, in a news release.

Everolimus is an interesting drug. Activity in the mTOR pathway plays a role in other brain diseases -- including Alzheimer’s, Parkinson’s, Huntington’s diseases and autism -- and the drug could be tested for its effects on those disorders, Franz said. Research is also underway on the drug for its potential to treat other types of cancers.

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