Cystic Fibrosis Drug Wins Approval

Jan 31, 2012
Originally published on February 1, 2012 7:25 am

The Food and Drug Administration has approved the first drug that can treat the underlying cause of cystic fibrosis.

The drug, known as Kalydeco, works by helping to fix one defect in the protein that causes the disease.

About 30,000 Americans have cystic fibrosis, a genetic disorder that can cause 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 patients live longer, the 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 CF in 1989, they thought it would quickly lead to big breakthroughs.

But it 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 builds up in their lungs.

Frustrated by the slow progress of research, Beall's foundation invested $75 million in a quest for drugs that do more than just treat symptoms. That led to Kalydeco's approval Tuesday.

"Where these other drugs treat the symptoms of cystic fibrosis," Beall said, "Kalydeco treats the underlying cause of this disease."

Studies showed that Kalydeco can make a big difference for a few patients — the ones who have the specific defect that it helps to fix.

Emily Schaller, 29, who lives outside Detroit, is one of them. For most of her life, she was constantly getting infections and struggling to breathe. "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 is laugh," she said.

Now, there's one big drawback to the drug: It will only work for about 1,200 patients in the U.S. 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 fibrosis," 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 to anyone who does not have insurance and makes less than $150,000 a year.

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The Food and Drug Administration has approved the first drug that can treat the underlying cause of cystic fibrosis. The new pill targets a defect in a protein that causes the disease, and it will be one of the priciest drugs on the market. NPR's Rob Stein has more.

ROB STEIN, BYLINE: About 30,000 Americans have cystic fibrosis, a genetic disorder that can cause sticky mucus to build up in the lungs. Robert Beall, of the Cystic Fibrosis Foundation, says that leads to repeated infections.

ROBERT BEALL: As a result of recurrent infections, multiple infections, the individual's lungs are eventually destroyed, and they die an early death.

STEIN: 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 builds 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. And they finally found one. It's called Kalydeco.

BEALL: This drug treats the underlying cause of the disease. Where these other drugs treat the symptoms of cystic fibrosis, Kalydeco treats the underlying cause of this disease.

STEIN: Kalydeco works by repairing one defect in the protein that causes the disease. Studies showed that it can make a big difference for a few patients - the ones that have the defect. Here's Emily Schaller; she's one of them. She's 29, and lives outside Detroit. For most of her life, Schaller was constantly getting infections and struggling to breathe.

EMILY SCHALLER: It's like - you're like, you try to take a deep breath, but you just can't because your airways are blocked with that mucus.

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

SCHALLER: 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 it. And that's just so refreshing because all do is laugh.

STEIN: So these days, she's joking around a lot - and taking long bike rides and extended runs.

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 cystic fibrosis patients. Here's Robert Beall, again, from the Cystic Fibrosis Foundation.

BEALL: The science underlying Kalydeco has clearly paved the way for us to think about how we can impact upon all individuals with cystic fibrosis.

STEIN: It will be years before anyone knows whether the newer approach works. In the meantime, at least some patients can start using Kalydeco. Now, that won't come cheap. It costs nearly $300,000 a year for each patient. But Vertex Pharmaceuticals, the company that makes the drug, is promising 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.

Rob Stein, NPR News. Transcript provided by NPR, Copyright NPR.