Cystic Fibrosis breakthrough

1 in 29 Caucasian Americans have the Cystic Fibrosis gene


There's a new breakthrough in the treatment of a lung disease that kills patients by their mid-thirties.  Cystic Fibrosis is the most common, deadly, inherited disorder affecting Caucasians in the United States.   The New England Journal of Medicine calls the new therapy a milestone. Patients who've tried it say it's changed their lives.

Growing up, Angela Riddell loved swimming and softball, but Cystic Fibrosis made it hard for her to play.

"[I] couldn't run, [I] was constantly coughing and couldn't catch my breath," she says.

Riddell spent most of her life in and out of the hospital, struggling to survive.

"Rough, it's been real rough," she says.

Cystic Fibrosis is caused by a genetic abnormality. It results in thick, sticky mucus building up in the lungs and digestive tract leading to life-threatening infections and difficulty maintaining weight.

"Patients are dying right in the prime of their lives," explains JP Clancy, M.D., a professor and director of CF and clinical and translational research at Cincinnati Children's Hospital Medical Center.

Clancy believes a new oral drug could change that. VX770 targets one of the genetic mutations that leads to CF and reverses it.

"It's really unprecedented and many people consider it a game changer," says Clancy.

In a phase 3 clinical trial, adult participants taking the drug gained an average 10.6 % more lung function after 24 weeks and put on seven pounds. Children increased lung capacity by 12.5 % and gained eight pounds.

It has put Riddell back in the game. Before the drug, her lung capacity was at 48% and now it's shot up 23 points to 71% and she's also gained 20 pounds.

"I can see my future and it's getting older and seeing grandbabies," she says.
Neither kids nor adults in the study experienced side effects that were clearly related to the new medicine. It's important to note the drug only targets one of the genetic defects that leads to CF.

The FDA approved VX770 early this year.

Additional clinical trials are underway targeting some of the other common mutations that cause the condition.