Cystic fibrosis is one of the most common genetic disorders. It compromises a patient’s ability to breathe, digest food and ultimately leads to early death among the disease’s young patients. A Massachusetts biotech company this week announced a new combination therapy that could help people with the most common form of cystic fibrosis breathe easier.
Cystic fibrosis is an inherited disease that causes sticky mucus to settle in the lungs and block the flow of air, causing life-threatening infections. According to the American Lung Association, approximately one in 2,500 white Americans of European descent and one out of every 15,000 Americans of African descent are born with CF. The Cystic Fibrosis Foundation estimates it affects some 70,000 people around the world.
One of them is Aaron Stocks, who participated in the clinical trial of the new therapy. Within a couple of weeks of starting the two-drug treatment, Stocks noticed a big change.
"I was able to feel a difference in just the way I was breathing; being able to absorb my food better. That has always been an issue for me," he said. "So, it has really been eye-opening and making the future even more exciting for us.”
The CF foundation says about half of people born with the disorder die before their 30th birthday. But for the first time ever, one 28-year-old CF patient does not worry about his approaching mortality. In fact, he and his wife are thinking about starting a family.
“Now, we having different conversations planning for the future instead of, 'If' there is going to be a future,” he said.
With a combination of the CF drug Kalydeco and the experimental compound lumacaftor, those with the most common form of the disease could be breathing almost normally. There are many forms of CF, and the trial only included patients with the most common mutation.
The drug combination is manufactured by the biotech company Vertex. It treats the underlying cause of the disease, (which is abnormal proteins that cause thick mucus to accumulate in the lungs and impair digestion,) making it difficult for patients to get adequate oxygen and nourishment.
Aaron Stocks still spends several hours a day battling the disease, pounding his chest to loosen the mucus, taking vitamins and digestive enzymes as well as exercising to slow down progression of the disorder.
But the drugmaker says the combination therapy has given Stocks, and some 22,000 people around the world, the prospect of a new lease on life.
“It is going to help in the fact that there should be less of a decline in our health, which is the most exciting part,” he said.
Vertex will reportedly seek approval for the drug combination from the U.S. Food and Drug Administration by year's end. The company hopes the therapy becomes available to cystic fibrosis patients by the end of 2015.