The FDA has approved Vertex Pharmaceuticals’ first-in-class cystic fibrosis (CF) treatment Orkambi.

Orkambi (lumacaftor/ivacaftor) is the first drug for CF directed at treating the cause of the disease in people who have two copies of the F508del mutation. This mutation causes the production of an abnormal protein that disrupts how water and chloride are transported in the body. Inheriting it from both parents is the leading cause of CF.

The FDA granted the drug breakthrough therapy designation and priority review as studies have demonstrated a “substantial” improvement over other therapies.

Robert Beall, president and CEO of the Cystic Fibrosis Foundation, says: “We applaud the FDA for its swift approval of Orkambi. We are proud of the important role that the Foundation played in the research and development of both ivacaftor and lumacaftor, including initiating the first efforts that led to the discovery and development of these small molecules.

“It is our hope that everyone who is prescribed this drug will have immediate access to it so they can begin to live longer, healthier lives.” 

"Remarkable and effective"

Orkambi is widely being hailed as a breakthrough, and its study results have raised hopes that reducing the severity of the disease might ultimately translate into a survival benefit.

“It is not a cure, but it is as remarkable and effective a drug as I have seen in my lifetime,” Professor Stuart Elborn, from the School of Medicine, Dentistry and Biomedical Sciences at Queen’s University Belfast, told the Guardian.

In May its approval looked more doubtful after a review questioned whether the combination was actually more effective than ivacaftor alone – but the FDA panel backed the drug a few days later.

CF is a serious genetic disorder that results in the formation of thick mucus that builds up in the lungs, digestive tract and other parts of the body leading to severe respiratory and digestive problems, as well as other complications such as infections and diabetes.