By Matt McMillen
WebMD Health News
Reviewed by Hansa D. Bhargava, MD
May 26, 2015 -- Cystic fibrosis has been a frightening fact of life for Paige Ellens and her mother, Sharla, since Paige was born 17 years ago.
This ongoing, life-threatening disease causes the lungs to fill up with thick and sticky mucus. That mucus can block the airways, which damages the lungs and makes it hard to breathe.
"To see her struggle to breathe and she can't get a deep breath, that's a real panicked feeling because you, as a parent, are unable to help," says Sharla Ellens, who lives with her daughter in Lynden, WA.
But Paige Ellens and others with cystic fibrosis are optimistic about a new drug on the horizon. Orkambi, recently recommended for approval by an FDA panel, targets the most common genetic defect that causes the disease. If approved, it could eventually treat nearly half of the approximately 30,000 people with cystic fibrosis in the United States.
Ellens has been taking the experimental medication for the past year and a half as part of a study.
"It's made a huge difference," she says. "I've been able to exercise more without getting tired, to play soccer in the fall, and perform in musicals at my school in the spring."
And it has allowed her mother to see her daughter much less burdened by the disease.
"On the medicine, it's easier (for her) to breathe and to participate in sports without going into a coughing fit," Sharla Ellens says. "To see her be with her friends without being so fatigued, so tired, is really a joy."
A 'Major Milestone'?
Orkambi follows on the heels of Kalydeco, another breakthrough CF drug from the same pharmaceutical company, Vertex. Known generically as ivacaftor, Kalydeco was approved in 2012 to address a different genetic defect. It was the first drug to treat a cause of CF. Previous medications had focused on easing the symptoms.
But it helps only about 6% of people with CF -- those who have a particular genetic defect.
The study in which Ellens participated, published earlier this month in the New England Journal of Medicine, shows that Orkambi, which combines ivacaftor with the experimental drug lumacaftor, helps a large number of people with cystic fibrosis.
The benefits are not quite as dramatic as those of Kalydeco, but looking at the big picture, Orkambi is a "major milestone," says co-lead researcher Bonnie Ramsey, MD, director of the Center for Clinical and Translational Research at Seattle Children's Research Institute.
That big picture includes a 3% gain in lung function and a 40% drop in episodes of worsening respiratory symptoms (what doctors call "pulmonary exacerbations"), which often lead to infections and hospitalizations. Study participants also gained weight. That's very important for CF patients, who often fall below a healthy weight due to the disease's impact on digestion.
"The results were rock solid over the course of the 48-week study, something that can't be said of drugs that just treat the symptoms," Ramsey says of the improvements that participants had.
Jeff Masters, 37, of Ann Arbor, MI, says Orkambi has made a profound difference in his life.
"I have no problem maintaining my weight now, and right off the bat, I just wasn't coughing anymore," says Masters, who, like Ellens, continues to take the drug as part of an ongoing study. "It stopped the coughing in its tracks."
It also stopped his disease from getting worse, he says.
"I have 36, 37 years of lung scarring and was in steady decline," says Masters, who's now a runner. "I am slowly getting better. Three percent may not sound like much, but you have no idea how big a difference that makes."
According to Ramsey, Orkambi has helped patients no matter how far their disease had worsened, or "progressed." "If you had asked me 10 years ago if a miracle drug could help patients with scar tissue, I would have said no. I was surprised that we're seeing an effect in patients with more severe CF."
More Research Needed
Orkambi is effective and safe, according to current research, but long-term studies need to be done to prove its worth over time. Also, it needs to be studied in patients under the age of 12. That was the cut-off age of Ramsey's study.
An editorial accompanying the New England Journal of Medicine study notes that improvements seen with Orkambi are comparable to those seen with some other cystic fibrosis treatments when they were first introduced, although those treatments don't target the genetic defect.
Experts also say that other, even more effective medications are needed to treat the cause of CF.
"Orkambi is a significant first step, but it's not the end-all," says Michael Powers, MD, a pediatric pulmonologist at Oregon Health and Science University in Portland, one of the many sites where Ramsey's study was done. "Knowing the science, we know that there will be even better breakthroughs down the road."
Pediatric pulmonologist Pamela Davis, MD, PhD, agrees.
"Anything that attacks the basic defect in the most common (gene) mutation is an advance," says Davis, dean of the Case Western Reserve University School of Medicine in Cleveland. She wrote an editorial that accompanied Ramsey's study. "While this drug is not quite as effective as we had hoped, it needs to be celebrated and built upon."
The FDA is expected to decide whether or not to approve Orkambi by July 5. A green light will be welcomed by patients, but its expected high cost may be a barrier. No price has been set, but the drug that came before it, Kalydeco, costs more than $300,000 a year. Sharla Ellens worries that her insurance won't cover her daughter's treatment.
"What if we can't afford it? What can we do? This is a medication that can help Paige live longer, live more normally, and participate in life. It's really heart-wrenching to think that she may not be able to get it because of the price tag."
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