Preventing damage in young children is a critical step in managing this disease.....
A drug for cystic fibrosis has improved lung function in children under the age of 12, raising hopes that the life-threatening lung damage caused by the genetic disease can be halted or even reversed.
“It’s a major step forward,” comments Nick Medhurst, head of policy at the UK charity, the Cystic Fibrosis Trust. “What these results show is that it can prevent irreversible damage.”
Since the CFTR gene was discovered in 1989 researchers have tried to develop drugs that directly target the faulty protein it makes in those who have the disease, with some success. Kalydeco helps cells make a correct version of the CFTR protein and has been available since 2012, but it only works for CFTR mutations present in 5 per cent of people with the condition.
By combining Kalydeco with another drug called lumacaftor to create a single medicine called Orkambi, clinicians have since targeted the most common CFTR mutation and extended treatment options to half of all people with cystic fibrosis. Orkambi has been approved in the US, EU and other countries, and has been shown to reduce the number of lung infections people with cystic fibrosis get. However it is not available on the NHS in the UK, because the body NICE – which assesses the cost-effectiveness of drugs – has deemed the benefits of Orkambi to be too low for its high cost. Treatment costs £104,000 a year.
But new results from a phase III clinical trial suggest that the drug can stop the otherwise inexorable damage to the lungs that people with cystic fibrosis experience throughout their lives. The results also show that the drug can be beneficial for young children. At present, Orkambi is only approved in the EU for people over the age of 12.
“We’ve shown that even in younger patients who have relatively mild disease, Orkambi led to improvements in lung function,” says Felix Ratjen, of the Hospital for Sick Children at the University of Toronto, in Canada.