The European Commission (EC) has approved Vertex Pharmaceuticals' personalised medicine Kalydeco, clearing the company to launch the drug as the first treatment available in the region to target the cause of cystic fibrosis.
Kalydeco (ivacaftor) is now available for a certain subset of people with cystic fibrosis – people who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
There are thought to be around 1,100 people in Europe who have this specific mutation, meaning Vertex was able to apply for orphan drug status during its marketing authorisation application.
Despite its small target population, the drug is a breakthrough product in cystic fibrosis as it is able to tackle the genetic malfunction behind the condition, rather than simply alleviate symptoms like other available treatments.
Taken twice-daily in tablet form, it restores the function of the mutated CFTR protein, which regulates salt and water transport in the body.
When this protein malfunctions, as happens in people with cystic fibrosis, too much salt and water can be held in cells, leading to a build up of a thick mucus in the body's various passageways, leading to breathing problems and recurring chest and lung infections.
Current medications to treat cystic fibrosis include bronchodilator drugs to help open airways and DNase to break down mucus, but Kalydeco is the first to target the actual mechanism behind the condition.
"Kalydeco is one of the most important advances in the treatment of cystic fibrosis since the discovery of the CF gene in 1989,” said Stuart Elborn, President of the European Cystic Fibrosis Society.
“By treating the underlying cause of the disease in people with the G551D mutation, Kalydeco helped them breathe more easily, gain weight and resulted in certain improvements in quality of life."
Vertex also declared its intentions to continue research cystic firboriss treatments for other populations.
“We're not finished," said Dr Peter Mueller, chief scientific officer and executive VP of global R&D at Vertex. "The scientists at Vertex, in collaboration with doctors, patients and advocates around the world, are working hard to develop additional new medicines to treat the underlying cause of the disease in many more people with cystic fibrosis."