About two months ago, the Food and Drug Administration approved a new drug for cystic firbrosis patients known as Kalydeco (kuh-LYE-deh-koh).
For about four percent of the CF population – those ages 6 and older with the G551D mutation of cystic fibrosis – the drug is an important breakthrough, researchers say. Taken as a pill, the drug dramatically improves lung function, lowers sweat chloride levels and helps patients gain weight.
“Kalydeco addresses the underlying cause of CF,” said Robert Beall, Ph.D., president and CEO of the Cystic Fibrosis Foundation. “The science behind the drug has opened exciting new doors to research and development that may eventually lead to additional therapies that will benefit more people living with CF.”
For Barry Zoob, chairman emeritus of the Nebraska Chapter of the Cystic Fibrosis Foundation and a board member for 35 years, the discovery of Kalydeco is a true milestone.
“For the first time in history, we have found a path where young people can live with the disease rather than die from it,” Zoob said. “Kalydeco could be as significant for CF patients as the discovery of insulin was for people with diabetes.”
Dr. Beall has been a driving force in the progress being made in CF treatments, said John Colombo, M.D., professor, pediatrics pulmonology, and director of the cystic fibrosis program at the University of Nebraska Medical Center and Children’s Hospital & Medical Center.
“Dr. Beall pulls the strings for everything in CF,” Dr. Colombo said. “He has an amazing mind. He’s the guy behind the basic science who has been able to get the scientists together.”
Dr. Beall will be coming to Omaha on April 13-14. He will meet with UNMC’s CF team and members of the Nebraska Cystic Fibrosis Foundation Chapter on Friday and will be a presenter at a CF Conference at UNMC’s Durham Research Center on Saturday.
“CF treatment is evolving,” Dr. Colombo said. “About eight years ago, we all thought gene therapy was the answer, but it didn’t pan out. Now it’s protein manipulation. We can manipulate the protein and control the disease. It’s an exciting time for CF. We have new studies coming up that will involve younger kids with different mutations.”
The vast majority of individuals with CF in the United States – nearly 90 percent – have a mutation called Delta F508, Dr. Colombo said.
Developing therapies for patients with the Delta F508 mutation is among the current research priorities of the CF Foundation. Progress toward this goal includes an ongoing Phase 2 clinical trial of Kalydeco in combination with another potential therapy, VX-809, in people with the Delta F508 mutation.
Results from the first part of this Phase 2 trial were positive. The second part of the study is now under way.
Cystic fibrosis is an inherited chronic disease that affects nearly 30,000 children and adults in the United States, and 70,000 worldwide.
A defective gene and its protein product 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.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with the disease.
Many people with the disease can now expect to live into their 30s, 40s and beyond.