Introducing cystic fibrosis from an expert perspective

Gary Connett from the University Hospital Southampton NHS Foundation Trust introduces the subject of cystic fibrosis (CF) from his expert perspective, on behalf of the Cystic Fibrosis Trust

The UK has one of the highest incidences of cystic fibrosis (CF), just behind Ireland, according to Dr Gary Connett from the University Hospital Southampton NHS Foundation Trust, who we were fortunate to interview on behalf of the Cystic Fibrosis Trust.

By way of introduction, we know that cystic fibrosis (CF) is a genetic condition affecting more than 10,400 people in the UK. Those affected are born with CF and cannot catch it later in life, but one in 25 of us carries one copy of the faulty gene, usually without knowing, as this does not cause symptoms. Two faulty genes are needed for CF to occur. Dr Connett reveals his own thoughts on CF, which affects both children and adults.

“It is the most common genetic, life-limiting disease and is caused by the lack of a protein that works on controlling the movement of salt and water across cell surfaces. When the protein is missing secretions on the cell surface get sticky and clogged up. This results in severe complications particularly affecting the lungs, the digestive system and can also cause diabetes, liver damage and, in the majority of cases, early death from respiratory complications.”

The conversation then turned to detail Dr Gary Connett’s views on new precision medicines and their potential role in improving the outlook for CF children and adults. He explains that the current treatment of CF is very much about battling the complications that occur as a result of the underlying defects in the cells which go wrong. He elaborates on this in his own words:

“We’re treating the infections with antibiotics, we’re trying to correct the malnutrition, and we’re using lots of treatment to increase the clearance of airway secretions, but all of this is downstream from the underlying problem. What these new medicines offer is the potential to actually get to the root cause of the problem and treat the underlying defect at the cellular level; putting back the missing protein at the cell surface to make things work for the patients.”

Artificial intelligence (AI) to improve respiratory care

Dr Connett then shares his opinion on advancements in artificial intelligence (AI) to improve respiratory care, indeed, he believes that it has great potential for CF patients. He tells us that CF is well placed to benefit from AI and machine learning because there is robust data currently available about CF patients held on the CF registry developed by the CF Trust for all affected UK patients.

These data lend themselves to machine learning through AI software programmes. Colleagues have already been using these data to predict the timing of the need for a lung transplant amongst more severely affected patients. The use of AI software can better predict when a transplant is needed, which is likely to result in more timely operations with better outcomes. The rich data source held on the UK CF registry lends itself to many other AI analyses for the benefit of patients and it is hoped that this will happen in the near future.

The way forward for respiratory care and research priorities

In closing, Dr Connett leaves us with his thoughts on the way forward for respiratory care for CF patients and future research priorities in the field. He underlines the successes in CF that have been achieved through the effectiveness of multi-professional teams working according to high standards of specialist care. He stresses how therapies, that he hopes will shortly be available for all who might benefit, are an unprecedented step change and that there is great excitement about this in the CF community.

“Good CF care is very much a team-based approach including doctors, nurses, dieticians, physiotherapists, psychologists, pharmacists and a whole host of healthcare professionals working together in the best interests of patients. Paying attention to detail, ensuring good adherence to treatment and supporting families and affected individuals are all important components of care.

Future treatments are at an exciting stage of development with potential benefits that we have not seen with previously available therapies. The next-generation of these medicines are likely to be even more effective in correcting the missing CF proteins at the cellular level and should benefit the vast majority of CF sufferers.

The research priorities for CF will now be concerned with identifying the best products within this next-generation of treatments and getting these to patients. There will be ongoing issues around adherence and we know that it is human nature to not always take what is in your own best interests. We need to do as much as possible to support patients to take all their treatments for maximum benefit. These medicines also have to be made available at a fair price for NHS patients.”

Prof Gary Connett

Consultant Paediatrician

University Hospital Southampton NHS Foundation Trust
On behalf of the Cystic Fibrosis Trust
Tel: +44 (0)20 3795 1555
gary.connett@uhs.nhs.uk
laurie.garlington@cysticfibrosis.org.uk
www.cysticfibrosis.org.uk
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