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Queen’s University involved in ground-breaking cystic fibrosis trial

Researchers at Queen’s University Belfast have been involved in ground-breaking research that holds promise for a vast majority of those with cystic fibrosis.

The researchers identified how a combination of three drugs, “triple therapy”, can successfully treat the majority of people with CF by tackling the underlying cause of the disease. 

The drug targets the root cause of cystic fibrosis, a genetic condition which clogs up the lungs and digestive system, making breathing difficult resulting in an early death for those affected.

Cystic fibrosis (CF) is a genetic condition affecting more than 10,400 people in the UK.  It is a progressive and life-threatening disease which results in the formation of thick mucus that builds up in the lungs and other parts of the body. It leads to severe respiratory infections that damage the lungs and cause them to fail. 

CF is caused by a defective protein that results from mutations in the CFTR gene. The most common mutation is the F508del mutation. Although there is currently no cure for CF, it is possible to help control the symptoms and delay complications to make the condition easier to live with.

Dr Damian Downey, a Clinical Senior Lecturer at the Wellcome-Wolfson Institute for Experimental Medicine, Queen’s University Belfast, co-author on the worldwide trial to assess the safety and efficacy of a new triple drug combination (TRIKAFTATM) in patients with CF aged 12 years and older. The study that involved a four-week, randomized, double-blind, active-controlled trial in 107 patients who had two copies of the F508del mutation.

Dr Downey explains: “The trial was a success in demonstrating that this drug combination can potentially treat up to 90% of people with CF by addressing the underlying cause of their disease. This new “triple therapy” has the potential to transform the lives of people with CF. It results in a significant improvement in lung function and quality of life and also reduces the frequency of chest infections. This treatment will likely alter the future of CF care.”

The study was conducted with funding from Vertex Pharmaceuticals, which developed the triple-combination drug therapy, known as Trikafta. Last week, the Food and Drug Administration approved Trikafta for use with about 90 percent of patients with cystic fibrosis — those who have the most common cystic fibrosis gene mutation and are 12 or older.

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