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ENHANCE – A ‘really important study’ for cystic fibrosis community

By Denise Doherty - 01st Apr 2024


Reference: April 2024 | Issue 4 | Vol 10 | Page 35


A major new study led by the Royal College of Surgeons Ireland (RCSI) University of Medicine and Health Sciences and Children’s Health Ireland (CHI) has been awarded funding of €5.6 million to build a better understanding of cystic fibrosis (CF). The ENHANCE study – Establishing Natural History in an Advanced New CF Care Era – will be carried out at 13 paediatric CF clinic sites across Ireland and the UK. 

Most of the morbidity and mortality from CF is primarily related to respiratory disease, however, complications affecting other body systems are becoming more evident as life expectancy continues to increase. The genetic condition is caused by mutations of the CFTR gene that regulates salt transport.

Over 2,000 mutations in the CFTR gene have been identified that cause CF. Ireland has the highest incidence of the inherited disease in the world, with an estimated one-in-19 people ‘carrying’ the altered gene. Approximately 1,400 children and adults live with CF and more than 30 new cases of the condition are diagnosed nationwide each year. Diagnosis is usually made within the first few weeks of life.  

“The ways that we can help children with CF have evolved considerably over the last 15 years, notably with new medicines becoming available, and many children will start these treatments from very early in life,” said Prof Paul McNally, Associate Professor of Paediatrics at the RCSI and Consultant in Respiratory Medicine at CHI.

Prof McNally will co-lead the ENHANCE study with Prof Jane Davies, Consultant in Paediatric Respiratory Medicine at Royal Brompton Hospital, part of Guy’s and St Thomas’ NHS Foundation Trust, and Professor at the National Heart and Lung Institute, Imperial College London, UK. He described the outlook for children with CF as “considerably better than it was 15 years ago”, but acknowledged deficits in current understanding of the disease.

Prof McNally also emphasised the “importance of working closely with the CF community” in designing and conducting the investigation. “We spent a long time working with parents of children with CF in Ireland and the UK to understand how best to design the study, as we wanted to ensure we are concentrating on the things that are most relevant to children with CF and their parents in this new era. Parents of children with CF and other representatives from the CF community will be part of the study group and help us to ensure that we stay focused on our goals.” 

The ENHANCE study will monitor how CF complications develop in small children, and how different groups of children with CF develop features of the disease. The research will also compare children of a similar age with and without CF.

Prof Davies also commented and said that “ENHANCE will be a really important study for the whole CF community”.

“By including children from underrepresented groups and those who cannot access some CF treatments, we will get a broad and comprehensive understanding of this new era of CF in childhood. While we have made much progress as a community, more remains to be done, and it is through studies like ENHANCE that we can understand and focus on the next challenges faced by children with CF and their families.”

Philip Watt, CEO of Cystic Fibrosis Ireland (CFI) welcomed the study. He said: “CFI strongly supports the ENHANCE study led by the RCSI and CHI, including its focus on children with CF. This study is particularly important in the new era of innovative CF drug therapies and improved care. With many unknowns and uncertainties remaining, this research is both very welcome and timely from a patient perspective.”  

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