Researchers in the US have revealed that a new gene-targeted treatment for cystic fibrosis has shown promise toward treating a small number of those affected by the incurable disease.
Published in the New England Journal of Medicine, the results of the phase III trial using the drug ivacaftor showed it could improve lung function by acting against the defect which causes the disease.
Made by the US-based Vertex Pharmaceuticals, the drug works to restore the balance of salt and water on the surface of the patient's airways.
The process is crucial for CF patients because their bodies produce a thick, sticky mucus that makes it hard to breathe.
However, the treatment studied only applies to about four percent of the 70,000 people worldwide who suffer from the hereditary disease because it targets a specific gene mutation known as G551D.
More than 90 percent of patients have another mutation called 508-CFTR.
Still, the study authors hailed the findings -- which suggested that the oral twice-daily medication could improve lung function, growth and sweat chloride levels over a span of 11 months -- as a promising breakthrough.
"Ivacaftor represents a significant advancement in the treatment of CF," said co-author Michael Konstan, chair of the department of pediatrics at Case Western Reserve University School of Medicine.
"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," he added.
"We have been treating cystic fibrosis for more than 60 years. Current therapies are directed at the complications of the disease."
Cystic fibrosis mainly affects the lungs, where excess mucus builds up causing inflammation and infection. While other organs such as the pancreas are also susceptible to complications from CF, most patients die of lung disease.
The average lifespan of people with CF is 37 years of age.
Scientists discovered the CTFR gene which causes the disease in 1989.
In an accompanying editorial, Pamela Davis, dean of the School of Medicine and vice president for medical affairs at Case Western Reserve University, wrote, called the trial "a triumph resulting from the discovery of the cystic fibrosis gene."
"This study is also a great victory in the war against genetic diseases," she added.
However, it remains unclear if longer-term exposure to the drug could halt the deterioration of lung function, or if the medication could have any effect on patients with the more common form of the genetic mutation that causes CF.
The study received funding from the Massachusetts-based Vertex Pharmaceuticals, which also manufactures a drug called Incivek approved by US regulators in May to treat hepatitis C.