Cystic fibrosis is a rare, progressive, life-threatening disease caused by a defective protein that results from mutations in the CFTR gene, which results in the formation of thick mucus that builds up in the lungs, digestive tract and other parts of the body. It often leads to severe respiratory and digestive problems, as well as other complications such as infections and diabetes. There are approximately 2,000 known mutations of the CFTR gene, the most common of which is the F508del mutation, which affects 90 per cent of the population with cystic fibrosis, or roughly 27,000 people in the US.
The new treatment, Trikafta, which has been 20 years in the making by Vertex, is a combination of three drugs that target the defective CFRT protein. It is the first approved treatment that is effective for cystic fibrosis patients aged 12 years and older with at least one F508del mutation.
“At the FDA, we’re consistently looking for ways to help speed the development of new therapies for complex diseases, while maintaining our high standards of review. Today’s landmark approval is a testament to these efforts, making a novel treatment available to most cystic fibrosis patients, including adolescents, who previously had no options, and giving others in the cystic fibrosis community access to an additional effective therapy,” said acting FDA Commissioner Ned Sharpless, M.D on Monday 21 October.
Vertex’s Chairman, President and CEO Jeffrey Leiden said that the approval marked a ‘milestone for cystic fibrosis patients, their families and Vertex’. “After a 20-year journey together, we have received FDA approval of Trikafta: a single breakthrough medicine with the potential to treat up to 90 per cent of all people with cystic fibrosis in the future. For approximately 6,000 people with cystic fibrosis in the US, Trikafta is the first medicine that can treat the underlying cause of their disease.”
Vertex has also submitted a Marketing Authorisation Application to the European Medicines Agency for treatment and is also evaluating its success in people aged six through to 11.