A new gene-targeted treatment for cystic fibrosis is showing great promise toward treating a small number of those affected by the incurable and life-shortening lung disease, US researchers said Wednesday.
In a study appearing in The New England Journal of Medicine, researchers have reported that the experimental oral drug ivacaftor, formerly known as VX-770, dramatically improved lung function and other symptoms in cystic fibrosis patients with the rare mutant gene G551D – found in 4% of those with CF.
Results of the study, which included 161 CF patients as young as 12, showed that those taking ivacaftor gained an average of 6 pounds more than the placebo-treated patients and were also 55 percent less likely to have a “pulmonary exacerbation” – temporary but serious lung function problems like coughing and shortness of breath.
“It really is a major milestone in the treatment of cystic fibrosis,” Cystic Fibrosis Foundation (CFF) president and CEO Robert J. Beall told WebMD. “Even thought it only affects a small percentage (of patients) the hope is there that we can finally do something about this disease.”
WebMD describes cystic fibrosis as a genetic disease of the glands that produce sweat and mucus, and causes the body to produce very thick, sticky secretions that clog the lungs, leaving them vulnerable to bacterial growth, infection and inflammation.
In addition, the disease also affects mucus membranes elsewhere in the body, including in the digestive system, where it interferes with absorption of nutrients, forcing those who suffer from it to consume thousands of daily calories to keep from losing weight.
According to the the CFF, about 30,000 children and adults in the United States and 70,000 people worldwide have cystic fibrosis and roughly 1,000 new cases are diagnosed each year.
The average lifespan of a CF patient is less than 40 years.
Ivacaftor has been submitted to the FDA for approval, and could be available to cystic fibrosis patients as early as next year. When it goes on sale it will be sold under the brand name Kalydeco.