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'Game-Changer' in Fight Against Cystic Fibrosis

'Game-Changer' in Fight Against Cystic Fibrosis [Boston Herald]

From Boston Herald (MA) (May 10, 2012)

May 10--A locally waged battle against cystic fibrosis has yielded an experimental drug combination that is giving new hope to families affected by a disease that historically has meant death at an early age.

In a clinical trial, Vertex Pharmaceuticals in Cambridge found that a combination of its drug Kalydeco, which won federal regulatory approval only four months ago, and the experimental drug VX-809 substantially improved breathing for some cystic fibrosis patients.

"I never dreamed we’d have this day," said Joe O’Donnell, who has raised about $250 million for cystic fibrosis research over the past 35 years and lost his 12-year-old son, Joey, to the disease in 1986. "This is tentatively a game-changer. We’re not there yet. But we’re damn close."

Kalydeco was the first treatment to target the underlying cause of cystic fibrosis, which thickens mucus in the lungs and air passages, making it difficult to breathe and digest food. But the drug works for only 4 percent of the 30,000 Americans who suffer from the disease, those with a certain gene mutation.

The combination of Kalydeco and VX-809, however, has the advantage of a dual attack, said Dr. Henry Dorkin, director of the Cystic Fibrosis Center at Children’s Hospital Boston and the investigator for Vertex’s clinical trial there. VX-809 gets a defective protein in the cell to where it needs to be, and Kalydeco helps it to work better.

Of those who received the drug combination, the breathing of approximately 46 percent improved by 5 percentage points or more, and the breathing of about 30 percent improved by 10 percentage points or more, said Dr. Karl Yen, Vertex’s medical lead for the study.

"I was floored," Yen told the Herald yesterday. "This is the first time we may have a treatment for the underlying cause in the most common form of cystic fibrosis."

For MassBio President and CEO Robert Coughlin, whose 10-year-old son was not helped by Kalydeco because of his particular gene mutation, news that a drug combination showed promising results offered hope.

"It’s tough to come up with words for how happy I am," Coughlin said.

Final results of the study, however, will not be available until later this year, Yen cautioned. And a final set of studies must be done before Vertex can apply for approval from the Food and Drug Administration.

Until then, Coughlin and parents like him live with a sobering statistic: The median predicted age of survival for a person with cystic fibrosis is 38 years.

"For a lot of people who lost their children, it’s bittersweet," O’Donnell said. "But Joey was a great kid. I feel like he’s right here, saying, ‘Hurry up. You’re almost there.’ "


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Posted: May 2012