Promising results from clinical trials for a cystic fibrosis drug are giving hope to patients and their families in the Delaware Valley.
Cystic fibrosis, a genetic disease that causes thickening of mucus in the lungs, eventually leads to death.
Results released Tuesday from the third and final stage of clinical trials for the drug, called VX-770, showed improved breathing and weight gain for children aged 6 to 11 with the disease. The findings were similar to those released in February for older children.
Current treatments for the disease loosen and dislodge mucus buildup in the lungs and combat infection. According to Dr. Laurie Varlotta, head of the cystic fibrosis center at St. Christopher’s Hospital for Children in Philadelphia, this would be the first to target the genetic mutation that causes the disease.
“It is a very big deal for us,” Varlotta said. “The individuals with cystic fibrosis actually had an increase in their lung function of about 10 percent and an increase in their weight, which is something that they struggle with, so this has hopefully added years to their lives.”
Cystic fibrosis is caused by a genetic mutation that prevents liquid from flowing freely from cell to cell, causing mucus to dry, clog airways and trap infections. This drug improves function of a key protein in that process.
The drug treats the genetic mutation that is responsible for only about 4 percent of cystic fibrosis cases. Varlotta is involved with another trial to see if it also helps those with a more common mutation, which about 85 percent of patients carry.
Bethann Deveney of Wilmington, Delaware, hopes a treatment for the most common mutation, which her 15-year-old daughter carries, follows sooner rather than later.
“I don’t want any other parent to be given the same information I was 15 years ago that my daughter was chronically and fatally ill and not be given some hope,” Deveney said.
Her daughter, Madeline, spends more than two hours a day doing breathing treatments to combat her disease.
“When my daughter was first diagnosed they said ‘Hey, we just found the gene that causes CF and we have hope that we’re gonna get it cured,’ ” Deveney said. “Well that was hopeful to hear, but now it’s 15 years later and we’re only just scraping the surface of that possibility. And this drug represents those possibilities. In real time. So that’s big.”
Vertex Pharmaceuticals said it plans to file a drug application with the FDA in the second half of 2011. If the application is successful, the drug would be the first treatment developed from genetic research for an inherited mutation.