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Praised by experts as a breakthrough for patients with a particular form of cystic fibrosis, ivacaftor was approved by the United States Food and Drug Administration (FDA) in January 2012 and is the first of its kind to treat the underlying defects of the disease, rather than manage its symptoms.

Breakthrough cystic fibrosis drug gives hope, transforms lives

06/Dec/2012

Sisters Cate Cheevers, 11, and Laura Cheevers, 14.

The Cheevers family didn’t sleep much. Laura spent her nights coughing, and her sister, Cate, followed suit. Fighting colds was a constant battle for the girls, requiring countless antibiotics and even several hospitalizations. Diagnosed at birth, the Cheevers sisters both have cystic fibrosis, a serious and often life-limiting genetic defect that coats their lungs with thick, sticky mucus and turns regular colds into debilitating struggles.

“It was a lot of fear, antibiotics and sleepless nights,” says their mother, Kim Cheevers.

Now, the girls are flourishing at dance class and soccer practice, keeping up with their friends and schoolwork, and recovering easily from their colds. The dramatic transformation in their quality of life is a result of a clinical trial at MassGeneral Hospital for Children, where Laura, now 14, and Cate, now 11, took the experimental drug, ivacaftor (also known as Kalydeco). Praised by experts as a breakthrough for patients with a particular form of cystic fibrosis, ivacaftor was approved by the United States Food and Drug Administration (FDA) in January 2012 and is the first of its kind to treat the underlying defects of the disease, rather than manage its symptoms.

“The ivacaftor trial was the most exciting therapeutic development for cystic fibrosis – almost unbelievable,” says Samuel Moskowitz, MD, Director of the MGHfC Pediatric Cystic Fibrosis Clinical Program and Associate Chief of the Pediatric Pulmonary Unit. “Even though I knew that the drug had proven itself in the laboratory, so many of these things fail in the clinic. This was stunning.”

Kim Cheevers, a pediatric intensive care nurse at MGHfC, says when she talked about ivacaftor with Allen Lapey, MD, it was the first time he became excited about a potential treatment. They were both eager, then, when MGHfC was chosen among more than 25 other hospitals in the United States to participate in the double-blind clinical trial, which took place over the course of 48 weeks starting in early 2010.

“We were one of the highest recruiters in the country for the clinical trial, and I’m very proud to say that MGH gets chosen to participate in these trials often” says Dr. Lapey, lead site investigator of the ivacaftor trial at MGHfC. “I was thrilled to offer the drug to patients, and our research coordinators were wonderful.”

“We get a lot of these trials because of our research program, our staff and our reputation,” says clinical research coordinator Brooke Wiley. “This particular trial was very positive for patients, and we’ve been thrilled to pass the word along.”

The Cheevers sisters, who were two of four participants in the MGHfC trial, began the 48 weeks not knowing whether they were getting the drug or a placebo. They were instructed to take a pill twice per day, and traveled from their home in North Andover to MGHfC for periodic measurement of their lung function and other tests. Over time, the family had their suspicions: Cate’s coughing significantly lessened, and she gained 16 pounds that year. Her lung function also improved 30 percent, which shocked the family. Although Laura wasn’t faring worse than normal, she wasn’t making the strides her sister was making. She even worsened during the winter, needing IV antibiotics to recover from yet another cold.

“At that point, we hoped Laura wasn’t on the drug, because if she was, it really wasn’t helping,” Kim Cheevers says.

Alanna Ta, 29, and her husband Tony.

Alanna Ta, another clinical trial participant, had her suspicions about the drug, too. The now 29-year-old Quincy native had grown accustomed to being hospitalized for cystic fibrosis nearly three times a year, and rarely was able to recover from her colds. Dr. Lapey says Ta barely achieved the requirements to participate in the trial because her condition was so poor; “I hate to think where she might be now if she hadn’t gone on the trial.” But within the first two weeks of the trial, Ta says she could tell she was on the drug because her lung function improved 10 percent.

In April 2011, both Alanna and the Cheevers sisters segued onto the actual drug, as participants in an extension of the clinical trial, with significant results. Alanna says she can stay out later and sleep better at night, and she hasn’t been to the hospital for over a year. Laura’s coughing subsided, the sisters have loads of energy, and Kim says it’s rare that the girls need antibiotics now. Since its FDA approval, they have all been taking ivacaftor regularly and will continue it for the rest of their lives.

“It’s been the most gratifying experience of my clinical career to see patients suddenly recover their health,” Dr. Lapey says. “The results of the trial were dramatic, and it’s a new start in the cystic fibrosis world. It’s very exciting because it’s the first time we’re withdrawing old treatment methods rather than adding them on.”

Vertex Pharmaceuticals of Cambridge, MA collaborated with the Cystic Fibrosis Foundation to develop ivacaftor. Although ivacaftor has been successful, Dr. Lapey says cystic fibrosis patients still need to pay attention to optimizing nutrition, airway clearance and aerobic exercise. But with the drug, the cystic fibrosis team has begun backing off of aggressive treatments, and many more families are sleeping through the night.

“The Cystic Fibrosis Foundation has been encouraged by the success of ivacaftor to pursue the next generation of treatments aimed at the most common genetic forms of cystic fibrosis, and is working with multiple pharmaceutical companies to accomplish this goal,” says Dr. Moskowitz. “We fully expect patients at MGH to participate in these efforts, and I feel very optimistic about the potential for real therapies for all cystic fibrosis patients in the next 10 to 20 years.”

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