(Bethesda, Md.) -- The Cystic Fibrosis Foundation applauds the successful results of Phase 3 studies of ivacaftor (Kalydeco™) in combination with lumacaftor (VX-809) for people with two copies of the F508del mutation of cystic fibrosis (CF). The results showed significant improvements in lung function and other key measures of the disease, according to Vertex Pharmaceuticals Inc., which plans to submit a New Drug Application (NDA) to the U.S. Food and Drug Administration in the fourth quarter of 2014 for review, with possible approval in 2015. 

Results from the two 24-week studies mark an important milestone for nearly 50 percent of people with cystic fibrosis -- specifically those with two copies of F508del, the most common CF mutation. The potential treatment is the first to combine two pills to address the underlying genetic cause of CF.

“This is a proud day for the CF community,” said Robert J. Beall, Ph.D., President and CEO of the CF Foundation. “Many people with CF and their families have been eagerly awaiting these results, and we are thrilled with the outcome. These studies further validate that we are on the right road to getting new and effective treatments into the hands of people with CF who so desperately need them.”

The studies were conducted at approximately 200 clinical trial sites in North America, Europe and Australia. More than 1,100 people with two copies of the F508del mutation ages 12 and older participated in the studies, which tested two different doses of the combination therapy.

Compared with those on placebo, participants who took the combination treatment showed significant and consistent improvement in lung function. They also demonstrated gains in other important health measures for CF, including weight gain and a reduction in the rate of pulmonary exacerbations and related hospitalizations and IV antibiotic use.

The positive results confirm the outcome of earlier, smaller trials of this drug combination.

Repairing the defective protein in people with the F508del mutation is a particularly challenging and intricate process. In this mutation, a series of problems prevents the protein from achieving the correct shape and reaching the surface of the cell. Lumacaftor was designed to move the F508del protein to the cell surface where its activity can be increased by a potentiator drug such as ivacaftor. 

These trials are the latest example of the CF Foundation's innovative venture philanthropy model, in which the Foundation raises and invests millions of dollars in research toward new treatments. This model has led to tremendous advances in the health and quality of life for people with CF. In fact, the life expectancy of a child with CF has doubled in the last 30 years.

Ivacaftor and lumacaftor were discovered by Vertex in collaboration with the CF Foundation, which provided substantial clinical and financial support in the development process, including $75 million in research funding. Ivacaftor was approved by the FDA as a stand-alone drug for people with the G551D mutation in 2012, and eligibility for the drug was expanded to people with several other closely related mutations in February 2014. The CF Foundation has since committed another $75 million with Vertex for the discovery of additional CF drugs.

Dr. Beall continued: “Kalydeco's approval was the essential first step in treating the underlying defect in CF; now, with this promising drug combination, we are taking another critical step forward in making sure that all people with CF have effective treatments, regardless of their mutation. We will not rest until we reach that goal.”

The Foundation continues to pursue the development of other promising compounds that address the basic defect in CF through collaborative efforts with leading biotech and pharmaceutical companies, including Pfizer, Genzyme and others. The exciting gains in CF drug discovery and development have attracted considerable interest from pharmaceutical companies new to the CF field, spurring innovative research strategies that could speed development of therapies for all people with CF, including those with rare mutations.

Read the Vertex Pharmaceuticals press release.

People with CF and their families who have questions about the Phase 3 results can contact Vertex Medical Information at 877-634-8789. 

About the Cystic Fibrosis Foundation 

The Cystic Fibrosis Foundation is the world's leader in the search for a cure for cystic fibrosis. The CF Foundation funds more cystic fibrosis research than any other organization, and nearly every CF drug available today was made possible because of CF Foundation support. Based in Bethesda, Md., the CF Foundation also supports and accredits a national care center network that has been recognized by the National Institutes of Health as a model of care for a chronic disease. The Cystic Fibrosis Foundation is a donor-supported nonprofit organization. 

Media Contact

Laurie Fink, national director of media relations: 301-841-2602; lfink@cff.org