An advance against a killer orphan disease

What goes wrong in CF

Cystic fibrosis is a debilitating disease, often fatal, that affects only about 30,000 people in this country. For that reason, it's considered an orphan disease, meaning that there's not a lot of payoff for drug companies or others to investigate a cure.

Still, work is underway, and this seems to be a breakthrough.

A drug being investigated at the University of Alabama has been shown to target the root cause of cystic fibrosis.

The drug, VX-770, was shown to improve function of a faulty protein responsible for cystic fibrosis, according to finding published in the New England Journal of Medicine.

Patients who took the drug for 28 showed improvement in several indicators of cystic fibrosis. These indicators included lung function, nasal potential difference measurements and sweat chloride levels. Excessive sweat chloride is how doctors typically diagnose cystic fibrosis.

"Patients with CF have a defective protein in chloride channels in lung cells that, in effect, causes a door to shut too tightly, ultimately leading to severe infections in the lung" said Steven M. Rowe, M.D., M.S.P.H, assistant professor of medicine at the University of Alabama at Birmingham and lead investigator at the UAB site, one of 16 study sites nationwide for this VX-770 trial. "The data suggest that the drug seems to improve the function of the protein, so that the door opens and closes more properly."

The drug is now in phase 3 trials and could be submitted for a new drug application in 2011 if data from the studies allows it.

An effective way to bypass the orphan nature of such drugs is investment by the CF Foundation in research, and that's the case with this drug.

VX-770 was discovered in a collaboration between Vertex Pharmaceuticals and the Cystic Fibrosis Foundation, which invested more than $75 million in the project. Vertex is developing the drug.

The Foundation funds more cystic fibrosis research than any other organization in the world, and virtually every approved CF drug available today was made possible in part because of Foundation support.