Effective drug treatment for cystic fibrosis

26 June 2011

Cystic fibrosis (CF) sufferers have been given fresh hope with a new drug that specifically targets the so-called ‘Celtic gene’ mutation (G551D) that is common in Ireland.
International trials led by Irish researchers have shown that the drug VX-770 (see previous news) improves lung function and reduces infections in CF patients. It is the first drug to treat the basic defect caused by the CFTR gene mutation (as opposed to the symptoms), by opening the defective ion channel in lung cells, allowing proper lung clearance of bacteria.
Stuart Elborn from Queen's University, Belfast commented: "The development of this drug is significant because it is the first to show that treating the underlying cause of Cystic Fibrosis may have profound effects on the disease, even among people who have been living with it for decades". It is hoped the new drug will be licensed for use in patients by 2012.

Comment: Ireland has the highest proportion of people with cystic fibrosis in the world; 1 in 19 people are carriers for the disease, compared with one in 25 for the UK. The Celtic mutation causes only some cases of CF (which can arise from more than a thousand different mutations in the CFTR gene), but researchers claim the drug could help all those with mutations that prevent function of the CFTR ion channel. Other drugs are in development that are intended to target other types of mutation such as the most common Delta F508, which blocks transport of the CFTR ion channel to the correct position on cell membranes.