AN INTERNATIONAL research group has developed a treatment that improves symptoms in those suffering from cystic fibrosis. It is the first drug of its kind to work directly on the “Celtic gene” associated with the disease.
Cystic fibrosis is Ireland’s most common life-threatening genetically inherited disease. There are an estimated 1,100 sufferers here, with Ireland having the highest proportion of cystic fibrosis people in the world.
This is because one in 19 Irish people carries the mutated gene associated with the disorder. If two carriers have a child it has a one in four chance of developing cystic fibrosis, says the Cystic Fibrosis Association of Ireland.
It affects a wide range of tissues, but in particular it causes severe breathing difficulties because the gene mutation makes it difficult to clear the lungs of mucus and bacteria.
The Celtic gene mutation is very common here, with about one in 10 patients carrying this specific mutation.
The new drug was the first that successfully acted directly on the defect caused by the Celtic gene mutation, said Prof Stuart Elborn of Queen’s University Belfast.
The director of Queen’s centre for infection and immunity, Prof Elborn jointly led the research group, which also involved scientists from the University of Ulster, the Belfast Health and Social Care Trust and others in the US, Europe and Australia.
The drug underwent international trials and the results showed that the drug, known as VX-770, delivered significant improvement in lung function, in quality of life and a reduction in disease flare for those with the Celtic gene, according to Queen’s.
The trials have already established that the drug can greatly improve symptoms for patients. It was not clear whether it could also improve life expectancy.