'Huge breakthrough' for cystic fibrosis

Jean Enersen reports

Thirteen year-old Sydney Pytte swallows up to 40 pills a day, just to try prevent the flare-ups of cystic fibrosis, a genetic disease that can affect every organ in the body, but primarily the lungs.

Even with all of that medication, Sydney still ends up in the hospital about once every 18 months.

Parents Danica and Kris Pytte try to keep life as normal as possible for their daughter.

"We have not stopped her from being in sports, we haven't stopped her from traveling with her cousin. We want her to lead that life. If there is going got be a shortened lifespan, we don't want to be the ones who've stopped her from doing the things she really wants to do," said Danica.

Seattle Children's Research Institute's Dr. Bonnie Ramsey says the life expectancy of CF patients has gradually improved over the last few decades

"When I started 30 years ago, patients died usually in their teens," said Dr. Ramsey, who is also a professor of pediatrics at the University of Washington School of Medicine. CF patients are now living to their early 40s, thanks to improved treatments.

The real breakthrough, however, didn't come until 2012 with the approval of the drug Kalydeco which was the first to treat the underlying cause in patients with a rarer form of the disease.

That drug targets the defective protein at the cell wall and allows salt to pass through the membrane to prevent mucous buildup, but patients like Sydney have a bigger problem

"That protein doesn't even get up to the surface, so if you use Kalydeco alone there's nothing there for it to work on," said Dr. Ramsey,

That's where a new drug called lumacaftor comes in. It guides the protein where it needs to be so Kalydeco can do its job.

"It's a huge breakthrough. It is not a cure. I don't want to say it's a cure, but it's a step forward," said Dr. Ramsey, who was one of the lead authors of the study.

FDA approval is expected to come in July for patients 12 years or older.

The combo drug will be marketed under the brand name Orkambi and has the potential to help about half of the patients with CF.

Cost could be an issue. Some early estimates put the combo drug at about $250,000 a year.


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