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New Treatment Greatly Improves Cystic Fibrosis Symptoms

BEC CREW
20 MAY 2015

Researchers in the UK have come up with a new treatment for cystic fibrosis (CF), which addresses the genetic mutations that cause around 50 percent of diagnosed cases, and they say it not only improved patients' lung function, but could also increase life expectancy.

 

Cystic fibrosis is a life-threatening genetic disorder that affects a person’s respiratory system, digestive system and reproductive system, causing their mucus glands to go into hyperdrive, which blocks the tiny air passages in their lungs and causes repeated infections. Over many years, these blockages and infections end up significantly shortening a person’s life, with most patients dying by the age of 40. In Australia, one in 25 people are carriers of the CF gene, and one in every 2,500 births produces a child with the disease.

To address both the cause of the disease and the symptoms that lead to a shortening of life, researchers from Queen's University Belfast tried a combination of two drugs - called lumacaftor and ivacaftor - out on 1,108 patients over 24 weeks. 

Publishing in the New England Journal of Medicine, the team repots that the treatment improved the lung function of the young people in the trial so much that they ended up visiting hospital less, and required less courses of antibiotics to deal with infections. The patients also reportedly found it easier to breathe after the treatment, they successfully put on healthy weight, and their quality of life improved so much, that one of them told the researchers her CF "is not a problem" now.

All of these factors combined have researchers hoping that the treatment will extend the life expectancy of patients in a meaningful way, as lead researcher Stuart Elborn told James Gallagher at the BBC:

"This is likely to become a fundamental treatment for cystic fibrosis. Starting in children may prevent the disease process developing if we correct the basic defect early in life. Will this improve survival for people with cystic fibrosis? We would anticipate it would have a really good chance of doing that, but we don't know for sure yet."

As Sarah Boseley reports at The Guardian, one of the drugs, ivacaftor, is already being used to treat children who have been diagnosed with a genetic mutation that causes around 5 percent of cases worldwide. By combining it with lumacaftor, Elborn and his team have come up with a treatment that now addresses the most common CF genetic defect, which is responsible for around 50 of diagnosed cases. “It is not a cure, but it is as remarkable and effective a drug as I have seen in my lifetime," Elborn said.

The one problem? These drugs are by no means cheap. According to Boseley at The Guardian, in the US, Ivacaftor alone costs $250,000 per patient per year. Regulatory bodies in the UK are now assessing the cost for UK residents to hopefully make it more accessible to those who could benefit from it