Nature Medicine | Spoonful of Medicine

First mutation-specific treatment for cystic fibrosis filed for approval

‘Kalydeco’ may sound like a type of Californian interior design style, but it’s actually the name of a new cystic fibrosis drug that Vertex Pharmaceutical announced today it has submitted for market approval in the US.

It’s been a good year for Cambridge, Massachusetts-based Vertex. In May, the US Food and Drug Administration approved the company’s protease inhibitor drug Incivek (telaprevir) — one of the first therapies designed to specifically target proteins of the hepatitis C virus. And now Vertex is hoping to be provide the first treatment that specifically hits the mutated protein responsible for cystic fibrosis, a fatal genetic disorder that afflicts around 80,000 people worldwide.

The small molecule drug formerly known as VX-770 is designed to treat the 4% of people with cystic fibrosis who have a rare mutation called G551D in their CFTR (cystic fibrosis transmembrane conductance regulator) gene. Kalydeco — which, according to Vertex’s press release, is actually pronounced more like the first part of ‘kaleidoscope’ — works by propping open the defective chloride channel protein encoded by CFTR to allow the transport of ions across the cell membrane. As we reported earlier this year, in a study of 161 people with at least one copy of the G551D mutation participants taking the Vertex drug saw their ability to blow air from their lungs improve by 10% and their sweat levels also returned to normal. (See ‘Mutation-specific cystic fibrosis treatments on verge of approval’ for more.)

In a statement, Robert Beall, president and chief executive of the Cystic Fibrosis Foundation, which has invested approximately $75 million in Vertex’s product pipeline, remarked that Kalydeco is “an important potential new medicine for the treatment of some people with CF.” But his words hint at the fact that the vast majority of the people living with the disease will not benefit from Kalydeco alone. Instead of the G551D mutation, 90% of cystic fibrosis sufferers carry an alternate coding error that prevents the CFTR protein from folding properly in addition to disturbing its chloride pumping activity.

In hopes of treating these people, Vertex is combining Kalydeco with another experimental agent called VX-809 in a 160-person clinical trial that is currently enrolling participants. Meanwhile, the company said it plans to turn in its EU application of Kalydeco for people with the G551D mutation by the end of the month.

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