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Norwalk Doctor Speaks About Cystic Fibrosis Drug

The mutated gene that causes cystic fibrosis (CF), a disease that leads to excessive mucus buildup in the lungs and lung damage, was discovered 22 years ago. Now, scientists at Vertex Pharmaceuticals have announced a potential treatment for it. The new drug, VX-770 , has been shown in clinical trials to improve lung function in patients suffering from cystic fibrosis, as well as to reduce the number of diseases associated with it that require antibiotics.

Stephen M. Winter, MD, chief of pulmonary and critical care medicine at Norwalk Hospital, says the new treatment could have a tremendous impact on patients suffering with CF. “All previous treatments of cystic fibrosis have been ways of addressing the manifestation of the disease. This new molecule could actually treat the cause of CF, which is an enormous paradigm shift,” he says.

CF is an inherited chronic disease, caused by a defective gene, which affects the lungs and digestive system of about 30,000 children and adults in the United States and 70,000 people worldwide. “It is caused by an abnormal protein that regulates the movement of water into the respiratory system,” says Dr. Winter. “Phlegm becomes thick, sticky and difficult for patients to remove,” he says. And as a result, he says, patients contract recurrent infections throughout their lives.

Cystic fibrosis can lead to life-threatening lung infections and can also obstruct the pancreas and stop natural enzymes from helping the body break down and absorb food. But VX-770, says Dr. Winter, could be a fundamental shift in the way CF is treated because it is the first drug that treats the actual cause of the disease.

“It is the first step in what might be a long journey toward helping a majority of patients with cystic fibrosis,” says Dr. Winters.

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