A study of an experimental drug from the company Vertex, called VX-770, successfully reduced lung problems in CF patients, and the company hopes to try for approval of the drug later this year. If all goes well, doctors may soon have their first drug to treat the cause of this devastating disease, instead of just combatting the symptoms.
Cystic fibrosis is a genetic disease that impairs lung and digestive function. In particular, the normally thin layer of mucus in the lungs thickens up and impairs breathing; this happens because patients have a faulty version of a protein that helps clear mucus.
About 1800 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been implicated in the disease. The gene encodes a molecular channel that shuttles chloride ions across cellular membranes, and people with two mutated copies develop mucus-filled lungs susceptible to infection. Few patients live to see their 30s. In 1989, CF became the first disease pinned to a specific gene mutation, without the benefit of knowing the protein first. [Nature]
This newest test was a Phase III trail of Vertex’s drug, which was funded in part by the Cystic Fibrosis Foundation. The treatment goes after one major genetic mutations that causes the disease, called G551.