A NEW drug which targets the so-called “Celtic gene” mutation associated with cystic fibrosis has been heralded as a groundbreaking development by campaigners.
The treatment is the first cystic fibrosis therapy to work directly on the genetic defect, which causes thick mucus to build up in the lungs and digestive tracts of sufferers.
Clinical trials of the VX-770 drug have been found to significantly enhance lung function in CF patients, to reduce disease flare-ups and improve the quality of life for patients.
The drug, which was developed by an international team of researchers led by scientists from Queen’s University Belfast and US pharmaceutical firm Vertex, is expected to be available in Ireland by the middle of next year.
Cystic fibrosis campaigner Orla Tinsley yesterday described the discovery as a “groundbreaking step” in the treatment of CF.
“We haven’t seen anything like this before because it gets right to the core of where the disease originates,” she said.
“For scientists to be able to target those cells which cause the inflammation and, essentially, stall the progression of the illness brings us closer to finding a more successful treatment.
“It’s early days,” Ms Tinsley added, “but from what I understand, it significantly decreases the level of inflammation which should, in turn, lessen the amount of infections and flare-ups.
“This should decrease the requirement for intravenous treatment and slow down the rate of lung damage, perhaps prolonging life.”
The Cystic Fibrosis Association of Ireland also welcomed the development but cautioned that a cure for the disease was “still a long way” off.
The association’s chief executive Philip Watt said: “This is exciting news. It is the first time that a drug will impact on cystic fibrosis itself. It’s the most significant breakthrough since the so called CF gene was discovered in 1989.
“It is important to caution that it is still not a cure and that at present it will impact on only about 10 per cent of the Irish CF population,” Mr Watt added.
“ However the new drug points the way for future research and offers improved quality of life to those with the Celtic gene and hope to others with CF with another gene mutation.”
Cystic fibrosis is the most common life-threatening inherited disease in Ireland, affecting about 1,100 people.
The mutated Celtic gene affects about 4 per cent of the world’s CF population, but up to 10 per cent of the CF population in Ireland and about 20 per cent of the CF population in the greater Cork region are affected.
Clinical trials showed the drug increased lung function in patients by up to 10 per cent and improved weight gain, a problem for many CF sufferers.
It is too soon to say, though, if the drug will help extend life expectancy.
