Albany Medical Center has been prescribing a new drug that offers hope to extend the lives of some patients with cystic fibrosis.
As a child with cystic fibrosis (CF), Scott Marcella, now a student at Rensselaer Polytechnic Institute, never thought of himself as different, although he took a lot of pills and remembers making frequent trips to Albany Med’s Cystic Fibrosis Center.
“Then, when I was around 11, I read in a CF brochure that the median survival age is 37. I was confused and shocked,” said Scott.
His mother, Kim, told him that such predictions did not apply to him or his sister Kayleigh, who also has CF.
“We’ve always reminded them that medical technology is advancing all the time,” said
She was right. In January 2012, the FDA approved a breakthrough drug for CF called Kalydeco, the first drug to target one of the genetic mutations underlying CF. The drug, taken as a pill, is helping patients like Scott and Kayleigh who have the uncommon mutation called G551D.
“I am excited about how well it is working for them. Unfortunately, only about 1,200 people in the country have the particular mutation, but we are continuing to push research to fix the other mutations that cause CF,” said Paul Comber, MD, PhD, pediatric pulmonologist at the Cystic Fibrosis Center.
People with CF produce sticky mucous leading to severe respiratory and digestive problems. Although the median survival age is still considered to be 37, Dr. Comber believes that with new medications like Kalydeco, as well as improved antibiotic and nutrition therapy, people with CF will live longer. Albany Med will be involved in further studies of the drug to see if its use can be expanded in combination with other drugs, he added.
“Kalydeco is truly a ‘game-changer’ for CF,” said Dr. Comber. “It has given hope even to patients who don’t have the G551D mutation. As a pediatric lung doctor who’s been in involved with CF for 39 years, it is absolutely amazing to be able to tell parents with confidence that we will find a cure for their child’s disease.”
The drug has worked so well for Scott that his lung function is now in the normal range, and Dr. Comber has taken him off some medications.
Kayleigh, who is a student at Siena College, is feeling better as well. Two years ago while hiking in Maine, she was unable to reach the top of Gorham Mountain. But last summer she conquered the 525-foot peak. “When I reached the top of the mountain, it felt awesome,” she said.