Roughly 70,000 people worldwide have cystic fibrosis (CF)—a progressive, degenerative disease characterized by the buildup of unusually thick mucus in the lungs and other tissues. It occurs when a mutation causes a specific protein, called the cystic fibrosis transmembrane conductance regulator (CFTR), to malfunction. In healthy people, CFTR moves electrolytes in and out of tissues, helping the body maintain a proper balance of water and salt.
Now, an exciting new drug combination promises to dramatically improve the lives of 90 percent of patients. It is being hailed by patient advocates as “the single greatest advancement in treatment in the history of CF.”
The recent U.S. Food and Drug Administration approval of Trikafta, a three-drug combination treatment for CF, is a triumph of decades of cumulative efforts by scientists from across the academic, nonprofit and industrial sectors. Francis Collins, director of the U.S. National Institutes of Health (NIH), calls the successful collaboration leading up to the development of Trikafta an “important model for other rare genetic diseases.”
In the 1960s, the average life expectancy of someone with CF was only 10 years. In 2018, before the development of Trikafta, a child born with CF had an expected lifespan of 44 years. Thanks to this new treatment, Trikafta-eligible patients “who were unsure about whether they should bother attending college because they had always known they would die young are now being told they should think about planning for retirement,” according to a Washington Post article.
Collins, who worked as a physician-geneticist before his time at NIH, contributed to this research and led one of the teams that co-discovered the CFTR gene in 1989. Known for his love of music, he wrote a song called “Dare to Dream” in celebration of this discovery. He shares his excitement and describes more about the drug’s development and release in a recent NPR interview.
We at APS are thrilled to hear about this life-changing treatment. It represents countless hours of research, advocacy and drug development to give people with a deadly disease the hope of a decades-longer life. It also highlights the collaborative nature of science and the critical role of basic research.
We are lucky to see this passion and enthusiasm for discovery, curiosity and the challenge of solving complex problems in our APS members every day. We wanted to take a moment to congratulate Collins and all the researchers who made this advancement possible for a job well done.
Kudos to all those researchers who dare to dream.