Cystic Fibrosis Drug Wins Approval

The Food and Drug Administration Tuesday approved the first drug that can treat the underlying cause of Cystic Fibrosis.

The drug, known as Kalydeco, works by helping to fix a defect in a protein that causes Cystic Fibrosis.

About 30,000 Americans have Cystic Fibrosis, a genetic disorder that causes sticky mucus to build up in the lungs. That leads to life-threatening infections and other potentially serious complications. Although treatments for symptoms have helped cystic fibrosis live longer, patients often die before reaching middle-age.

“Eventually the lungs are destroyed and they have a premature death,” said Robert Beall of the Cystic Fibrosis Foundation.

When scientists discovered the genetic defect that causes Cystic Fibrosis in 1989, they thought it would quickly lead to big breakthroughs. But that turned out to be a lot more complicated than anyone thought. Attempts to fix the broken gene with gene therapy, for example, didn’t work out. That left patients with drugs that did little more than thin out the mucus that buildings up in their lungs.
Frustrated by the slow progress of research, Beall’s foundation invested $75 million in a quest for new drugs that do more than just treat symptoms. That led to Kalydeco’s approval.

“This drug treats the underlying cause of the disease. Whereas these other drugs treat the symptom of Cystic Fibrosis. Kalydeco treats the underlying cause of this disease,” Beall said.

Studies showed that Kalydeco can make a big difference for a few patients: The ones that have that defect. Emily Schaller, 29, who lives outside Detroit, is one of them. For most of her life, she was constantly getting infections and struggling to breath.

“It’s like, you try to take a deep breath but you just can’t because your airways are blocked with that mucus,” Schaller said.

But within days of starting to take Kalydeco as part of a study, Schaller noticed a huge difference.

“My friends and I and family like to joke and when I would laugh before i would go into a coughing fit for five minutes and need five or 10 minutes to recover from this coughing fit. But now it’s like I can laugh and not cough after fit. And that’s just so refreshing because all I like to do it laugh,” she said.

Now, there’s one big drawback to the drug: It will only work for about 1,200 patients in the United States. But researchers have started testing combining Kalydeco with another drug that targets a much more common defect. Researchers hope the two-drug combination will help perhaps 90 percent of patients.

“The science underlying Kalydeco has clearly paved the way for us to think about how we can impact upon all individuals with Cystic Fibrosos,” Beall said.

It will be years before anyone knows whether the newer approach works. In the meantime, at least some patients can start using Kalydeco.

Kalydeco costs nearly $300,000 a year for each patient, according to Vertex Pharmaceuticals, the company that makes the drug.

Vertex has promised to help. Among other things, Vertex says it will give the drug away for free to anyone who does not have insurance and makes less than $150,000 a year.

Copyright 2012 National Public Radio. To see more, visit http://www.npr.org/.