iStockphoto/Thinkstock(BOSTON) -- An experimental drug called ivacaftor has transformed life for two Massachusetts sisters born with cystic fibrosis, a genetic disease that frequently interrupted their schoolwork and extracurricular activities by turning simple colds and viruses into potentially life-threatening lung infections that slowly reduced their ability to breathe freely.
Laura Cheevers, now 13, and her sister Cate, 10, were born with a gene defect that clogged their lungs with thick, sticky mucus, leaving them vulnerable to bacterial growth, infection and inflammation. Cystic fibrosis affects mucus membranes elsewhere in their bodies, including their digestive systems, where it interferes with absorption of nutrients, forcing them to consume thousands of daily calories to keep from losing weight. Both were in and out of the hospital and tired easily from an incurable, progressive disorder, which their parents knew could cut short their lives.
But today both are thriving, thanks to an international team of scientists and the Cystic Fibrosis Foundation, which spent years jointly developing what is shaping up to be the first treatment successfully targeting the basic defect underlying their disease. Although the twice-daily pill only helps CF patients with one particular genetic mutation -- about five percent -- experts expect the research to help them target the other mutations responsible for the disease. Both girls participated in double-blind clinical trials comparing ivacaftor pills to dummy pills among young adults and children. Neither the patients, nor their doctors, knew for sure for 48 weeks if they were getting the medication -- or the placebo.
However, the family and Cate had their suspicions. They noticed that Cate began improving within a month of beginning the study of ivacaftor in children 6 to 11. She stopped coughing, began growing like a weed, and her first lung tests showed "almost a 30-percent bump, which blew all of us away," said her mother, Kim Cheevers. Laura, who was in a similar study of the drug in children and adults ages 12 and older, stayed "pretty much the same as before. She ended up worsening over the winter."
Then, on April 1, everyone in the two trials began getting the medication for sure, and the results have been nothing short of stunning for the sisters from North Andover, Mass.
Laura, who typically "strains to gain a pound a year," has gained about 8 pounds, said Kim Cheevers, a pediatric intensive care nurse at Massachusetts General Hospital in Boston. "She is not coughing at night anymore. When she does get sick -- and this week we all have this horrendous cold and cough -- her mucus isn't that thick, thick sticky mucus. Everything is watery; it's easier for her to clear." More remarkable still, "she hasn't been on a course of antibiotics since she's been on the drug. In the past, every other month she'd be on something."
Laura and Cate are now six months into extensions of the ivacaftor clinical studies, which will provide them with the medication for eight years, their mother said. "We're on it until it gets FDA approval."
Vertex Pharmaceuticals, of Cambridge, Mass., developed the drug in collaboration with a non-profit drug research affiliate of the Cystic Fibrosis Foundation. On Oct. 19, Vertex asked the FDA for a priority review of the drug, which can be granted to medications considered major treatment advances. Vertex also requested similar expedited consideration from the European Medicines Agency, the regulatory body for the European Union.
The trial in which Laura enrolled found that ivacaftor improved lung function, helped with normal growth and weight gain, and reduced infections with few side effects, according to a report in Wednesday's issue of the New England Journal of Medicine. Improvements for those getting the drug began as early as two weeks and lasted for the duration of the study. Furthermore, the rate of serious side effects was worse among placebo recipients than those getting ivacaftor, suggesting it's safe as well.
Up until now, most drugs given for cystic fibrosis treated only its complications, such as chronic lung inflammation and frequent infections, and helped patients clear the clogged mucus better. These drugs helped push median survival in the last four decades from 11 years to what the Cystic Fibrosis Foundation says is now 37 years.
Results from a study of ivacaftor in children ages 6 to 11 (in which Cate participated), as well as use of the drug in combination with VX-809, another drug in the CF pipeline, are being presented this week at the 25th Annual North American Cystic Fibrosis Conference in Anaheim, Calif.
Copyright 2011 ABC News Radio
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