When Griffin Moritz was 10, he experienced what his mother, Debora, called "an explosion" of non-cancerous but life-threatening brain tumors.
They were one aspect of a rare genetic disease called tuberous sclerosis that his family had dreaded, after he grappled with frequent seizures, autism and reddened skin bumps that doctors periodically lasered.
Neurologists could only offer surgery for the growths that blocked the flow of cerebrospinal fluid bathing Griffin's brain and spinal cord. But Griffin wasn't a good candidate for the operation.
So when his mom heard of an experimental medication to shrink the subependymal giant-cell astrocytomas (SEGAs), she raced to enroll her son in a small clinical trial at Cincinnati Children's Hospital Medical Center, 1,800 miles from their home in Scottsdale, Ariz.
Three years after Griffin began swallowing daily doses of the immune-suppressing drug everolimus, called RAD0001 for study purposes, the 13-year-old's brain tumors have nearly disappeared. He's having far fewer seizures. The red angiofibromas on his face have faded. And there's been another bonus. Although Griffin remains nonverbal, "he became more in-the-moment. He's more responsive to things. His eye contact improved and he [is] learning more readily," Debora Moritz said.
"We say it's just been a totally RAD experience," his delighted mother said, playing on the drug's study name. "This is so huge. We think it is the Rosetta Stone for so many disorders."
Such striking results from a Phase I-II study of 28 patients led the FDA Saturday to grant fast-track approval to everolimus, which will be marketed as Afinitor, as an alternative to surgery for tuberous sclerosis patients. It's the first-ever approved treatment for the disorder.
"It's what we hoped for," said Dr. David Neal Franz, senior author of the study published in this week's issue of the New England Journal of Medicine.
The clinical trial, funded by the drug manufacturer Novartis, found that tumors shrank by at least 30 percent in 21 of the patients and by at least 50 percent in nine patients.
The most marked and fastest shrinkage occurred in the first three months of treatment, but the effects were sustained. Franz, a professor of pediatrics and neurology at the University of Cincinnati College of Medicine, said 75 percent of patients saw their tumors reduced by at least 30 percent in volume, and all participants had some response to the drug. Without it, he said, the buildup of water in the brain can cause hydrocephalus, which can then start to invade brain tissue. "If they're not treated, these grow at variable rates," he said. "A person may not live more than a few years."
"It is fantastic. I'm very glad it's come through this quickly," said pediatric neurologist Dr. Candida Brown, a tuberous sclerosis specialist at Children's Hospital & Research Center Oakland in northern California.
"Up until recently, we didn't have any kind of treatment. We just had symptomatic treatment for the effects of these tumors that grow throughout the body. We have a drug that is going to make a significant difference in the lives of these people."
FDA approval of an oral drug was welcome news for the community of about 40,000 Americans with tuberous sclerosis, who develop benign tumors of the kidneys, lungs, heart and skin. About 1 in 6,000 people are born with the disorder, and up to 20 percent of them develop brain tumors.