Now, nearly 20 years after scientists discovered the role of the pathway in tumor growth, researchers developed vismodegib to target the pathway, basically shutting it off. The drug is manufactured by Genentech.
According to the new results of small clinical trials, the approach works. Researchers studied 104 patients in the most advanced stages of basal cell carcinoma, giving them the drug for a little over a year. Tumors shrank in the majority of the patients, and in some patients, the tumors disappeared completely.
In a study of 41 patients with Gorlin syndrome, the results were similar. In the 26 patients getting the drug, researchers saw only two new tumors develop, compared with 29 new tumors in the 15 patients taking a placebo pill. The size of existing tumors also shrank in patients taking the drug. The drug worked with surprising speed; the researchers wrote that they expected the drug to need at least two months to make noticeable changes, but many patients saw results after about one month on the drug.
"This really is a breakthrough," said Dr. Darrell Rigel, clinical professor of dermatology at NYU-Langone Medical Center, who was not involved in the study. "On a scale of one to 10 in breakthroughs in dermatology, this is probably an eight or a nine."
Rigel has been using vismodegib in his patients with advanced basal cell disease since the U.S. Food and Drug Administration approved it in January. He said the differences for these patients have been dramatic.
"We really had nothing for these patients before. If someone comes in with 30 or 40 of these tumors, you start running out of places to cut people," he said. "To now have something that works so dramatically is very exciting."
Tough Side Effects, But Worth It The drug has some tough side effects, such as hair loss, painful muscle cramps, weight loss and loss of taste. The side effects were enough to drive 54 percent of the Gorlin syndrome patients to drop out of the study. In the study of patients with advanced basal cell carcinoma, seven patients died, though it's not clear if their deaths were directly related to the effects of the drug.
"The side effects were difficult. They take some soldiering," said Julie Breneiser, 54. She lost 50 pounds and had painful cramps in her legs and hands. She said losing her hair, including her eyebrows, was the most difficult thing to accept.
"But every time I felt down about, I thought about what I'm potentially gaining from the drug and for others who could benefit from it in the future," including her two children, both of whom have the disease, she said.
The drug's side effects were also tough for Brindley, who dropped 25 pounds and lost his hair.
"I didn't have much hair to begin with," he said. "The bright side is, I don't have to shave anymore."
But they were worth it in the end. Brindley said nearly all of his skin cancers disappeared after two months on the drug.
"I'm so amazed at what this drug did for me," he said. "My grandmother and mother and uncle and older sister all had it. I am so thankful that someone finally found a cure for this."