Touching Lives - April 2015
Easing the daily struggle of cystic fibrosis
Professor Steve Hart of University College London is developing a new treatment for the incurable inherited disease cystic fibrosis. The aim is to protect the lungs, ease children’s breathing difficulties and reduce the number of chest infections.
Each week in the UK, five people – mostly babies and young children – are diagnosed with cystic fibrosis, while two lives are lost to the condition.
Children with cystic fibrosis can experience persistent coughing, wheezing and recurring chest infections, which sometimes lead to pneumonia.
Treatment with medication and physiotherapy eases symptoms but can be gruelling, taking up to four hours a day.
Murray, now 18, who was diagnosed with cystic fibrosis aged two after his weight became critically low, explains: “The breathing exercises were hard to hide from friends, especially if they were staying over. The exercises had to be done at least twice a day. Being a child, I didn’t understand what the need for it was and why I had to do it and other children didn’t.”
Children’s symptoms all result from faults in a single gene. A medicine that targets this underlying cause of symptoms, rather than just the symptoms themselves, became available recently, but sadly it only works for around four per cent of people with cystic fibrosis. New treatments that work like this, but help more people, are urgently needed and this is the focus of Professor Hart’s study, which is funded by Action Medical Research and the Cystic Fibrosis Trust together.
“The lungs’ surface becomes dehydrated in children with cystic fibrosis,” Professor Hart explains. “We think this dehydration could be a major cause of symptoms – causing the production of thick sticky mucus in the lungs, which allows bacteria to flourish, for example, and damage the lungs. Our new medicine is designed to protect the lungs by stopping them from becoming dehydrated.”
In theory, this approach could benefit most children with cystic fibrosis. The team is testing how best to formulate the new medicine, and whether it is safe and effective, in the laboratory. “We envisage that children would need to take the new medicine just once per month, by inhaling it,” says Professor Hart. “We hope the medicine will one day help children to breathe more easily and stop them from getting so many bacterial infections – something which could dramatically change children’s lives for the better.”
This gives hope to children and young people who, like Murray, may spend their lives in and out of hospital. Although, thankfully, Murray is not affected as severely by the disease as some people, the condition remains challenging to live with. As Murray says: “It is difficult to maintain good health while struggling with cystic fibrosis.”