Fighting Cystic Fibrosis
(Ivanhoe Newswire) — Hope for better lungs! According to a recent study, the oral medication ivacaftor provides major, sustained improvement in lung function, growth and other signs and symptoms for cystic fibrosis patients. The study marks the first time a drug has been shown to work on the disease process rather than on the symptoms. Cystic fibrosis, which has no cure, is the most common lethal genetic disease in Caucasians.
“Ivacaftor represents a significant advancement in the treatment of CF. This study shows that the therapy can safely provide long-term benefits to patients with a specific type of cystic fibrosis,” Michael W. Konstan, MD, one of the study’s co-authors and Chairman of the Department of Pediatrics at Case Western Reserve University School of Medicine and Director of the LeRoy W. Matthews Cystic Fibrosis Center at UH Rainbow Babies & Children’s Hospital, was quoted as saying. “The availability of this medication for these CF patients holds great promise.”
Ivacaftor targets the underlying cause of CF, with the goal of preventing or slowing the development of related complications. Ivacaftor increases the effects of a specific protein that is the fundamental defect in cystic fibrosis and acts by restoring the balance of salt and water on the surface of the airways.
Researchers looked 161 people with CF ages 12 years and older with a specific CF mutation that affects 4 percent of people with CF. Results showed that taking the oral medication twice daily for 48 weeks improved several key outcome measures of CF, including lung function, growth and sweat chloride levels.
“We have been treating cystic fibrosis for more than 60 years. Current therapies are directed at the complications of the disease,” Konstan was quoted as saying. “This drug targets the basic defect of cystic fibrosis. Our hope is that by treating the basic defect, one can prevent complications of the disease, with the ultimate goal of improving the life span of people with CF.”
“This success of ivacaftor is a triumph resulting from the discovery of the cystic fibrosis gene in 1989. This study is also a great victory in the war against genetic diseases and marks the end of the beginning for the treatment of the cystic fibrosis defect,” Pamela B. Davis, MD, PhD, Dean of the School of Medicine and Vice President for Medical Affairs at Case Western Reserve University, wrote in an accompanying editorial.
CF affects about 30,000 people in the United States and 70,000 people worldwide. It is caused by a genetic mutation that results in a malfunctioning protein. The resulting imbalance of salt and water causes a cascade of mucus-plugging, infection and inflammation in the lungs. Although other organs also are affected, the primary cause of early death in CF is lung disease. Since the discovery of the CTFR gene in 1989, life expectancy has continued to increase and today is about 37 years.
SOURCE: New England Journal of Medicine, November 3, 2011