A new study called ENHANCE is seeking to better understand the current effect of cystic fibrosis (CF) in young children.
“There is so much to learn about the changes that are happening in children with CF, we are really excited about this new study,” Paul McNally, MD, a professor at the Royal College of Surgeons in Ireland, said in a press release. “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. This means the outlook for children with CF is considerably better than it was 15 years ago, but there is much about this that we don’t yet understand.”
McNally is leading the study alongside Jane Davies, MD, a professor at Imperial College London.
“ENHANCE will be a really important study for the whole CF community,” Davies said. “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.” .
The five-year ENHANCE study will be carried out at 13 pediatric CF centers in Ireland and the U.K. The research is being funded by a $5.9 million grant from the CF Foundation as well as a £100,000 ($121,102) grant from the CF Trust.
“Through our funding of the ENHANCE project we are driving significant research that will address this priority and ultimately support people with cystic fibrosis to live longer, healthier lives,” said Lucy Allen, PhD, director of research and healthcare data at CF Trust.
Advances in CF care in children
CF is an inherited disease caused by mutations in the CFTR gene, which provides instructions for making a protein of the same name. In CF, that protein’s dysfunction results in unusually thick and sticky mucus, which causes most of the disease’s symptoms.
Modern medical care has substantially improved outcomes for most people with CF; most babies born with CF are expected now to live well into adulthood.
The last decade or so has seen the approvals of CFTR modulators, which can improve the faulty CFTR protein’s function in people with specific disease-causing mutations. While, these medicines can improve outcomes for patients with eligible mutations, a number of people with CF have mutations that don’t respond to modulator therapy.
“Cystic fibrosis is a complex condition affecting many parts of the body. Although significant progress has been made in the treatment of cystic fibrosis in recent decades, we know that understanding the long-term effects of CFTR modulator medicines is a top research priority for the CF community,” Allen said.
The ENHANCE study — short for Establishing Natural History in an Advanced New CF Care Era — is reaching to better understand how the disease’s complications develop in small children and how groups of patients may experience those complications differently.
“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,” Davies said.
The researchers designed the study in collaboration with members of the CF community.
“We spent a long time working with parents of children with CF in Ireland and the U.K. 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,” McNally said. “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.”
“This study is particularly important in the new era of innovative CF drug therapies and improved care,” said Philip Watt, CEO of Cystic Fibrosis Ireland. “With many unknowns and uncertainties remaining, this research is both very welcome and timely from a patient perspective.”