Opening options for neurofibromatosis 2
Date: November 1, 2010
A few days before her 16th birthday, McKinnon Galloway woke up with a bad headache and nausea. Her parents, Mark and Tracy Galloway, thought her symptoms were due to nothing more than a mild concussion. Since McKinnon played volleyball on the club circuit, bumping another player—sometimes hard—wasn’t an uncommon occurrence. But when they got her MRI results from their neurologist, the family was in for a shock: McKinnon had tumors on the nerves that control hearing and balance on both sides. Soon afterwards, she was diagnosed with neurofibromatosis 2, a condition in which tumors spontaneously grow on nerves throughout the body.
Even though these tumors are considered benign and slow growing, they certainly aren’t harmless, says Jaishri Blakeley, director of Johns Hopkins’ Comprehensive Neurofibromatosis Center. The first symptom in adults and adolescents is typically hearing loss, which often leads to deafness. These tumors also often press on the facial nerve, a key player in expressing emotions, closing eyes and maintaining tone of the mouth to allow normal speech and chewing.
“We were pretty devastated,” Tracy says, a feeling that intensified when she, Mark and McKinnon heard that the only treatment for neurofibromatosis 2 is surgery to remove the tumors—a temporary fix, since most tumors produced by this condition grow back. Additionally, surgery can cause many of the same problems as the disease, such as hearing loss, facial paralysis and brainstem injury that can leave patients unable to swallow or walk.
When Mark and Tracy asked McKinnon’s local neurologist whether there might be a drug that could shrink the tumors, similar to medicines that some cancer patients take, they were told that no such drug exists.
But after meeting Blakeley at a neurofibromatosis conference in Washington, D.C., just two weeks later, the couple got new hope. Blakeley told them that that a tumor-shrinking drug does exist. A colleague at Massachusetts General Hospital, Scott Plotkin, had published a study only a few months earlier showing that bevacizumab, a drug also known as Avastin, shrunk tumors and helped maintain and even restore hearing in 60 percent of the patients in a small pilot study.
Avastin, which may work by cutting the blood supply to tumors, is typically used to treat kidney, colon, brain and lung cancer. Though the drug had not yet been approved for neurofibromatosis 2, the Galloways decided to make an appointment with Blakeley and try McKinnon on Avastin.
Now, every three weeks, McKinnon receives an intravenous infusion of the drug. “She drives herself,” Mark says. “Sometimes she takes a friend, sometimes she takes her boyfriend. They’ll have a date—dinner and an infusion.”
After a year on Avastin, her tumors have stopped growing and she hasn’t lost any hearing.
Seeing what this experimental treatment has done for their own daughter, the couple wished that every neurofibromatosis 2 patient might have the same chance. “We wanted to give other patients like McKinnon a better quality of life,” Tracy says.
The Galloways approached Blakeley to see what research might need support. The opportunity, Blakeley says, was obvious: She and Plotkin had devised a larger clinical trial for Avastin in neurofibromatosis 2 patients, but the study hadn’t received funding from the National Institutes of Health. Though the research received support from the Cancer Therapy Evaluation Program (CTEP), which provided enough Avastin for the trial, CTEP wasn’t able to pay for the administrative costs involved to complete the research.
To fill in the missing funding, the Galloways offered a nearly $333,000 donation, which allowed Blakeley and her colleagues to begin recruiting the first patients for the trial in October.
“This study would not have happened without the Galloways’ generous gift,” Blakeley says.
The research will involve 14 patients, who will receive Avastin every three weeks, as McKinnon does. Over the next 24 months, Blakeley and her colleagues will evaluate how quickly the drug works, how long it works, and whether its effects last after patients stop taking it.
Blakeley hopes that in addition to Avastin showing positive results, the trial will spur research into other medications for neurofibromatosis 2. “Before, we only had surgery to offer these patients,” she says. “This could open a whole new world of options.”
To make a gift to the Department of Neurology, please call 410-516-6250.
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