New Drug for Rare Type of Cystic Fibrosis

Patients with a rare type of the deadly lung disorder cystic fibrosis may be able to breathe easier thanks to a new drug that targets the defective protein causing the disease. Researchers from 13 universities and hospitals, including 10 CTSA institutions, partnered with the Cystic Fibrosis Foundation and the drug manufacturer Vertex Pharmaceuticals to conduct clinical trials and obtain FDA approval for the drug Kalydeco as a new treatment.

An estimated 30,000 people in the United States and 70,000 worldwide have cystic fibrosis, an inherited disease that causes thick, sticky mucus to clog the lungs and other organs, leading to life-threatening infections, digestive problems and usually death in early adulthood. People with cystic fibrosis have a mutation in a gene that produces cystic fibrosis transmembrane conductance regulator (CFTR), a protein that regulates the movement of ions and water in the body. Although medical advances have improved life expectancy, the impact of cystic fibrosis remains substantial.

Kalydeco is an oral medicine that could greatly improve the lives of individuals living with a rare form of cystic fibrosis caused by a specific genetic mutation in the CFTR gene, G551D-CFTR, which occurs in approximately five percent of individuals with cystic fibrosis. It is the first treatment that targets the defective protein that causes cystic fibrosis, as previous treatments have targeted only the secondary effects of dysfunction. In clinical trials, researchers found that patients with this particular mutation showed improved lung function following treatment with Kalydeco. These patients also showed improvements in other critical areas, including decreased respiratory distress symptoms, weight gain, and signs that their bodies were better able to carry salt in and out of cells.

The breadth of research and funding partners behind this study embodies the idea of team science, a cornerstone of the CTSA program. The research also highlights the potential of personalized medicine. Now, with this new understanding, physicians can tailor treatments to their patient’s genetic makeup. As more drugs are designed for specific genetic profiles, doctors will be able to match the best treatment with a given patient, ultimately enabling the right medicine to be delivered to the right patient at the right time.


Posted March 2012