A “groundbreaking” cystic fibrosis therapy could profoundly improve patients’ quality of life, say doctors. Patients often die before their 40s as mucus clogs and damages their lungs and leaves them prone to infection. A major trial on 1,108 patients, in the New England Journal of Medicine, showed a combination of drugs could bypass the genetic errors that cause the disease and may increase life expectancy.
The Cystic Fibrosis Trust said it could “improve the lives of many”. One in every 2,500 babies in the UK has cystic fibrosis. Errors in sufferers’ DNA – inherited from their parents – damage the microscopic machinery that controls salt and water levels in the linings of the lungs. The result is a thick mucus that inexorably damages the lungs.
Antibiotics help prevent infection and drugs can loosen the mucus, but nothing deals with the fundamental problem for most patients. The combination of drugs – lumacaftor and ivacaftor – were designed to repair that microscopic machinery. The trial showed that those patients given the cocktail for 24 weeks had better lung function. Cystic fibrosis also affects the mucus lining in the gut so the doctors were pleased to see the patients also gained weight in the trial.