Novel Cystic Fibrosis Rx Approved

Orkambi (lumacaftor and ivacaftor), from Vertex Pharmaceuticals, approved to treat cystic fibrosis patients with leading gene mutation

For the first time, the FDA has approved a cystic fibrosis drug that targets the cause of the disease for most patients.

The US Food and Drug Administration (FDA) today approved Orkambi (lumacaftor 200 mg/ivacaftor 125 mg), made by Vertex Pharmaceuticals Inc., to treat cystic fibrosis in patients whose disease is caused by two copies of a specific gene mutation.

That gene mutation is called F508del, and it spurs the body to produce a protein that affects how water is transported in the body. In cystic fibrosis, the body cannot effectively move water and sodium in and out of cells. The result of this problem is a buildup of thick mucus that can block the passageways in several important organ systems, such as the lungs, sweat glands, pancreas and digestive system.

Unlike other cystic fibrosis drugs, Orkambi is meant to target the cause of the disease —  the F508del gene mutation — rather than the symptoms.

“The FDA encourages manufacturers to develop new and innovative treatments for serious rare diseases like cystic fibrosis,” said John Jenkins, MD, director of the FDA's Office of New Drugs, Center for Drug Evaluation and Research, in a press release. “Today’s approval significantly broadens the availability of targeted treatments for the specific defects that cause cystic fibrosis.”

Researchers studied Orkambi for safety and effectiveness in two trials of more than 1,100 cystic fibrosis patients. Compared to patients who took a placebo (fake pill), those who received Orkambi showed improvements in lung function.

Common side effects included upper respiratory infections, shortness of breath, diarrhea, nausea and rashes.

Orkambi was only approved for use in patients older than 12 who have the F508del mutation.