The Cystic Fibrosis Therapeutics Development Center was the first site in the world to recruit patients for a Phase 3 clinical trial of the drug, called Kalydeco, to treat patients who have the G551D mutation.

The FDA approved Kalydeco Jan. 31.

“We enrolled the first patient in the study, which began in 2009, so there is a patient in Western New York who has been on this drug longer than anyone in the world,” says Drucy S. Borowitz, MD, clinical professor of pediatrics and director of the center, which is a partnership between UB and Women and Children’s Hospital of Buffalo.

Cystic fibrosis is a rare genetic disease that affects approximately 30,000 Americans. On average, patients with CF live only into their mid-20s.

Of individuals with CF, about 4 percent are believed to have the G551D mutation, in which the cystic fibrosis transmembrane regulator (CFTR) proteins do not work properly.

Kalydeco, the first drug of its class, is a small molecule that treats the underlying cause of the disease in people with the mutation by “repairing” the aberrant proteins so they function normally. Vertex Pharmaceuticals developed the drug.

“What’s exciting about this drug is that it shows the promise of the human genome project. It proves we can do it,” says Borowitz.

Kalydeco provides the critical proof of concept for a second drug in clinical trials that promises to treat the majority of patients with CF.

“At the CF center, we are actively involved in the development of this treatment, which combines Kalydeco with another drug to make the most common CF mutation function more normally,” Borowitz says.

That treatment, she adds, is currently in a Phase 2 clinical trial and is several years away from FDA approval.

“We believe that this treatment, if successful, will change the course of CF from a disease that people die from to a condition that people live with.”

The same drug-development concept used for these two drugs also may benefit people with diseases other than cystic fibrosis, Borowitz says.

The success of Kalydeco demonstrates the power of clinical translational research, Borowitz notes. A key factor, she says, is the willingness of Western New Yorkers to participate in clinical trials.

“Knowledge of basic science and the integration of our patients into clinical research is really what translational research should be. The path we are taking here in Buffalo for drug development is part of an incredible story of American innovation, compassion and international cooperation to change the course of disease,” she says.