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‘Groundbreaking’ cystic fibrosis treatment could improve quality of life for thousands


For most patients with cystic fibrosis, survival is about managing the symptoms through a series of lung treatments, medications and hospitalizations. The genetic condition, which prompts the body to make excess amounts of thick mucus that leads to loss of lung function and chronic infections, is aggressive and kills most before their 40s.

There’s only one approved drug that targets the underlying cause of the disease but it has only been found useful for a minuscule fraction of patients with a certain genetic mutation.

Scientists reported this week that they believe they may have come up with a treatment that will be effective for thousands more.

In a study published in the New England Journal of Medicine Sunday, researchers reported that they saw dramatic improvement in patients after treating them a pill that combines ivacaftor and another medication known as lumacaftor. In randomized trials of 1,108 patients with two copies of the cystic fibrosis gene mutation F508del – found in nearly half of those with the disease -- over 24 weeks, they found that that those taking the pills saw significantly improved lung function and reduced pulmonary exacerbations, which can be sudden and life threatening.

Susanna McColley, a professor of pediatrics at Northwestern University Feinberg School of Medicine said in a release that about 15,000 patients in the United States alone could benefit.

Vertex Pharmaceuticals, the manufacturer of the combination drug known as Orkambi, submitted the results of the study the Food and Drug Administration last week and an advisory committee has recommended that the FDA approve it for patients ages 12 and older. The government oversight body is not required to follow the recommendations of these committees but often does.

Robert J. Beall, president and CEO of the Cystic Fibrosis Foundation, which provided financial support to Vertex, said a statement that the results are “a powerful validation that this drug is an important new CF treatment.”