A new treatment involving a combination of lumacaftor-ivacaftor is showing promise against the most common genetic cause of cystic fibrosis as the therapy improves lung function and lowers the rate of pulmonary exacerbations. The results of a Phase III international clinical trial involving the combination therapy have been published online in the New England Journal of Medicine.
The clinical trials have shown that the combined lumacaftor-ivacaftor therapy is safe and effective for cystic fibrosis patients with two copies of the cystic fibrosis gene mutation (F508del) found in nearly half of the patients with this disease.
For those of you who are not aware about cystic fibrosis, it is a disease caused by genetic mutations that causes causes the body to make thick, sticky mucus. This mucus, if present in the lungs, leads to chronic infections and increasing loss of lung function, while in the pancreas, it keeps enzymes from reaching the gut to digest food.
The median life expectancy of those suffering from cystic fibrosis is 37 years, and currently available treatments and therapies mostly focus on managing symptoms and consequences of the disease.
“While significant progress has been made with supportive therapies for cystic fibrosis, developing treatments that address the underlying genetic cause has been a challenge,” said Susanna McColley, MD, one of the study’s authors and Professor of Pediatrics at Northwestern University Feinberg School of Medicine.
Ivacaftor was approved by the FDA a few years ago that addresses the genetic defect in cystic fibrosis, but the drug works only on genetic mutations found in a small portion of cystic fibrosis patients.
“Our study showed that combining ivacaftor with lumacaftor helps patients with the most common cystic fibrosis mutation. This is an exciting step forward”, said McColley.
The randomized, double-blind, placebo-controlled clinical trial included a total of 1,108 patients, 12 years of age and older, who were treated for 24 weeks in multiple centers.
“We will need more analyses and longer-term data to see if this treatment can alter the disease course and further extend the life expectancy of our patients,” said McColley.
The FDA Pulmonary-Allergy Drugs Advisory Committee met on May 12 to consider the results of this study. Final FDA approval is pending.
