A life-extending cystic fibrosis treatment has won a $3 million breakthrough prize:
The triple-drug combination Trikafta has given a new lease of life to 90% of people with cystic fibrosis, an inherited disorder that affects the lungs and other organs. Now, the trio of researchers who spearheaded its development has won one of this year’s US$3-million Breakthrough prizes — the most lucrative awards in science.
Sabine Hadida, Paul Negulescu and Fredrick Van Goor at Vertex Pharmaceuticals in San Diego, California, developed the treatment by combining different drugs that help a faulty protein to function.
“The development of Trikafta has been one of the most phenomenal and outstanding achievements of biomedical research in the last 30 years,” says geneticist and physician Francis Collins at the US National Human Genome Research Institute (NHGRI) in Bethesda, Maryland, who co-discovered the gene for cystic fibrosis in 19891.
The award was one of five Breakthrough prizes — awarded for achievements in life sciences, physics and mathematics — announced on 14 September.
Cystic fibrosis affects around 100,000 people worldwide, and for many years was considered a life-limiting condition. However, a study this year projected that treatment with drugs such as Trikafta (comprising elexacaftor, tezacaftor and ivacaftor) — approved by the US Food and Drug Administration in 2019 — can increase life expectancy from around 30 to more than 80 years2. “I hear almost every day from people who were really in trouble, with cystic fibrosis severely beginning to affect their chance of survival,” says Collins. “Now, after going on Trikafta, they are back at work and thinking about what they might want to do for retirement.”
Cystic fibrosis drugs target the malformed proteins at the root of the disease
The disease is caused by mutations in the gene that makes the cystic fibrosis transmembrane conductance regulator protein (CFTR), which ordinarily spans the membrane of cells that line several organs and is involved in the production of mucus, sweat and other fluids. In people with cystic fibrosis, these proteins are misfolded and don’t function correctly. This causes a build-up of unusually thick secretions, including mucus in the lungs, leading to serious health issues.
Once the CFTR gene had been identified, most efforts focused on ways to modify the gene to treat the disease, with little success. The team led by Hadida, Negulescu and Van Goor instead searched for a drug combination to coax the misfolded proteins into functioning correctly. The three drugs in Trikafta work together: two help to deliver more CFTR to the cell surface and the third enables the protein to work better once it is there3.
“There was a lot of scepticism that this could be done,” Hadida recalls. “But the patient community was cheering for us.” The drug-discovery process required a marathon effort, testing the effects of more than one million compounds on isolated human lung cells to identify candidate drugs for clinical trials.
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