Upstate patients with cystic fibrosis were part of the national clinical trial that led to approval of one of the first drugs designed to treat the underlying cause of the disease, an inherited life-threatening disorder that damages the lungs and digestive system.

The drug, called Orkambi, is for patients who have two copies of a particular genetic mutation, estimated to be more than half of the patients with cystic fibrosis. The genetic mutation at issue causes problems with a protein, which one of the two ingredients in Orkambi corrects. The other ingredient has already been used for select patients with cystic fibrosis, who have seen healthier weight and lung function and improved levels of chloride.

Orkambi, or a future drug combination like it, could potentially prevent the progression of organ damage many patients with cystic fibrosis experience. Physicians are hopeful that a drug like this could make it possible for people with CF to live full lives with fewer or no symptoms.

Orkambi is approved for patients who are 12 years or older. Some Upstate patients are involved in another clinical trial to see if the drug should be approved for younger patients.

This article appears in the fall 2015 issue of Upstate Health magazine.