Breathing easier: Cystic fibrosis breakthrough

The New England Journal of Medicine calls this medical breakthrough a milestone and patients who have tried it say it has changed their lives. There’s an advancement in the treatment of cystic fibrosis; a lung disease that can kill patients by their mid-thirties.

Growing up, Angela Riddell loved swimming and softball, but cystic fibrosis made it hard for her to play. Riddell recalls, “I could not run. I was constantly coughing and couldn’t catch my breath.”

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

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.

Dr. JP Clancy of Cincinnati Children's Hospital Medical Center comments on this extremely challenging disease. "Patients are dying right in the prime of their lives." But Dr. Clancy believes a new oral drug could change that.

The drug, VX-770, targets one of the genetic mutations that leads to cystic fibrosis and reverses it.

Dr. Clancy refers to this drug as a “game changer.”

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

Neither kids nor adults in the study experienced side effects that were clearly related to the new medicine.

VX-770 has even put Riddell back in the game. Before the drug, her lung capacity was at 48 percent. Now, it has shot up 23 points to 71 percent. Riddell also gained 20 pounds.

"I can see my future and it's getting older and seeing grandbabies,” says Riddell.

It is important to note the drug only targets one of the genetic defects that lead to cystic fibrosis. The FDA is expected to approve VX-770 early this year.

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


BACKGROUND: Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and digestive system of about 70,000 adults and children across the globe; at least 30,000 of those affected with the disease can be found in the United States. A defective gene and its protein cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections; and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. Cystic fibrosis not only affects one's breathing and digestive, but people with cystic fibrosis can also have problems with growth and development. There is no cure for cystic fibrosis and the disease generally gets worse over time.
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INSIDE SCOOP: 1 in 29 Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent. About 1,000 new cases of cystic fibrosis are diagnosed every year; and more than 70 percent of patients are diagnosed by the age of two. The life expectancy for people with cystic fibrosis has been steadily increasing over the past 40 years. In the 1950s, most children diagnosed with the disease did not make it to elementary age. Now people with cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer.
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SYMPTOMS: Symptoms for cystic fibrosis differ from person to person; however, people with the disease are often diagnosed at an early age - mostly by age two-however in rare cases some people are not diagnosed until age 18 or older. These patients usually have a milder form of the disease. Some common symptoms an infant may display are: a blocked small intestine at birth, this prevents the baby from passing their first stool; salty sweat or skin; diarrhea, and breathing problems. The baby may not be growing or gaining weight at the same rate as other infants their same age. The child may also experience nausea; a loss of appetite; and breathing problems.
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LATEST BREAKTHROUGH: A new drug created by Vertex Pharmaceuticals called VX-770 is designed to treat the underlying cause of cystic fibrosis. VX-770 allows proteins to function correctly, improving the flow of salt and fluids in and out of the cell. Patients who took the drug, showed marked improvements in lung function and other key indicators of the disease, including sweat chloride levels, likelihood of pulmonary exacerbations and body weight. So far, the drug shows no side effects.

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