Cure at last for cystic fibrosis

FDA approved the new cystic fibrosis (CF) drug, Trikafta, developed by Vertex Pharmaceuticals on Monday 21^st October. The treatment can potentially help up to 90% of the patients and will cost over $311,000 per year.

Cystic fibrosis is a rare genetic disease manifesting itself through accumulation of thick mucus in the body. Mutations in the gene coding CFRT (cystic fibrosis transmembrane conductance regulator) protein impair the processes of exchanging water and salts between the inside and outside of the cells, causing problems with respiratory and digestive systems and, ultimately, shortening the life expectancy to between 30 and 40 years. 75,000 people in North America, Europe and Australia have cystic fibrosis and is affecting more than 10,500 people in the UK.

The disease is currently not treatable, only symptoms can be controlled and sometimes even lung transplantation is recommended. Vertex Pharmaceuticals, a biotech company has dedicated nearly 20 years of research to develop treatments for people affected. Trikafta is the fourth Vertex’s CF treatment approved by FDA.

In 2012, a drug ivacaftor with a trade name Kalydeco was approved by FDA, effective in people with G551D mutation which is around 4% of the CF patients. In 2015, combination of ivacaftor with lumicaftor, known as Orkambi, was approved and was aimed at the most common cause of CF – the mutation of F508del gene. In 2018, an ivacaftor/tezacaftor drug was approved and eventually, on Monday 21^st October this year, elexacaftor/ivacaftor/tezacaftor combination drug was approved, priced $311,503 per year.

The newest drug consists of ivacaftor, a chloride channel opener, aiding regulation of salt transfer in and out of the cell, elexacaftor and tezacaftor helping the CFRT protein fold the way it does in a healthy person, and is distorted in a patient suffering from CF. The treatment is potentially effective in 90% of patients with cystic fibrosis.

The cost of over $310,000 per year makes the drug one of the most expensive on the market. Sadly, the treatment can only help the people who can access it and Vertex was already criticised in the UK for setting such a high price of the life-saving drug. However, the extensive research and increased awareness on what causes cystic fibrosis gives people affected a chance to increase the life expectancy that did not exist couple of years ago.