PHA research funding – helps develop a new ‘celtic gene’ drug for cystic fibrosis

The international research co-led by Queen’s University, Belfast, that has developed a radical new treatment for cystic fibrosis was enabled by significant research infrastructure investment from Health and Social Care Research and Development (HSC R&D), a division of the Public Health Agency (PHA).

The new drug, a landmark achievement, will benefit people who have the ‘celtic gene’, a genetic mutation which is particularly common in Ireland. 

Over the last four years, HSC R&D Division has funded the development of the Northern Ireland Clinical Research Network (NICRN). The NICRN enables high quality clinical trials and research to take place in our Health and Social Care Trusts by funding research nurses, physiotherapists and other essential infrastructure. The NICRN brings benefits to Northern Ireland by allowing patients to avail of innovative new treatments developed by our research scientists and clinicians. The network currently employs 30 staff in nine specialist areas, conducting over 80 research studies which involve around 7,000 patients.

This study was carried out by researchers at Queen’s University, Belfast, the University of Ulster, the Belfast Health and Social Care Trust and research partners in Europe, the USA and Australia. Patients who participated in clinical trials of the new treatment experienced significant improvement in lung function, quality of life and a reduction in disease flare-up.

The drug (VX-770) is a significant breakthrough not only for those with the ‘celtic gene’, known as G551D, but also for all other cystic fibrosis sufferers as it indicates that the basic defect in cystic fibrosis can be treated; this is the first drug to show a positive effect in this area. It is still too early to determine whether this treatment will improve life expectancy, but the improvements in the breathing tests and the reduction in flare-ups would suggest survival will be better.

Professor Stuart Elborn, Director of the Centre for Infection and Immunity at Queen’s University and co-leader of the study said: “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. The NICRN was fundamental to this work. I would not have been able to lead it or deliver on the clinical trial without the investment in infrastructure from HSC R&D Division.”

Dave Coleman, father of Danielle, a 12-year old cystic fibrosis sufferer, said: “Thank you for the best possible start to my daughter’s week. Congratulations to… the team on this fantastic achievement. Our world is a better place today”.

Dr Judy Bradley, from the University of Ulster said: “This drug opens the defective channel in the lung cells of people with cystic fibrosis and allows proper lung clearance of bacteria. This is a ground breaking treatment because it treats the basic defect caused by the gene mutation in patients.”

Dr Damien Downey, from the Belfast Health and Social Care Trust said: “The success of this study illustrates the benefits that come from collaborative work here in Northern Ireland. Not only will this breakthrough help patients in Ireland and the UK, but it has the potential to change the lives for those with cystic fibrosis around the world.” 

The new drug will be submitted for licensing in the autumn of 2011 and is expected to be available to patients by as early as 2012. 

Dr Michael Neely, Assistant Director, HSC R&D Division, PHA, said: “This study was part of a major programme of research in cystic fibrosis being led by the Belfast team. Another piece of work, also supported by the HSC R&D Division, is a US-Ireland-Northern Ireland collaboration focusing on the type of anaerobic bacteria that may cause damage to the lungs of cystic fibrosis patients during infection, with the aim of determining which antibiotics would be most appropriate and effective to improve clinical outcomes and quality of life.“