Gene Therapy Success for Cystic Fibrosis Lung Function

Research from the UK has shown the improvement of lung function of Cystic Fibrosis patients through the use of gene therapy in a two year trial, according to The Lancet Respiratory Medicine.
Although results were “modest”, senior author Professor Eric Alton from the National Heart and Lung Institute at Imperial College London reported the results as encouraging.
“Patients who received the gene therapy showed a significant, if modest, benefit in tests of lung function compared with the placebo group and there were no safety concerns,” he says.
To date, no cystic fibrosis gene therapy trial has been able to show long-term clinical improvement - despite expectations of a breakthrough since the discovery in 1989 of Cystic Fibrosis as a genetically inherited disease.
Coordinated by the UK Cystic Fibrosis Gene Therapy Consortium [2], the two-year study involved 136 CF patients aged 12 years or older from across the UK. Participants were randomly assigned to either 5ml of nebulised (inhaled) pGM169/GL67A (gene therapy) or saline (placebo) at monthly intervals over 1 year. Lung function was evaluated using a common clinical measure of the volume of air forcibly exhaled in one second (FEV1).
After a year of treatment, in the 62 patients who received the gene therapy, FEV1 was 3.7% greater compared to placebo [3]. This was a result of stabilisation of respiratory function rather than an improvement.
According to senior co-author Professor Stephen Hyde from the Gene Medicine Research Group at the University of Oxford, “Stabilisation of lung disease in itself is a worthwhile goal. We are actively pursuing further studies of non-viral gene therapy looking at different doses and combinations with other treatments, and more efficient vectors.”
Cystic fibrosis is a rare inherited disease caused by mutations in a single gene called cystic fibrosis transmembrane conductance regulator (CFTR) and affects over 90000 people worldwide and is  the most common life-threatening condition in Australia with one in 25 people carrying the CF gene. Scientists have discovered around 2000 CFTR mutations so far. These mutations make the lining of the lungs secrete unusually thick mucus. This leads to recurrent life-threatening lung infections, which result in lung damage that causes 90% of deaths in people with cystic fibrosis. At present the life expectancy of Australians with CF is 38 years.