I am going to take a guess that the teen romance movie Five Feet Apart, starring Haley Lu Richardson and Cole Sprouse, introduced many people to cystic fibrosis (CF). Certainly that was the case for my teenage daughter.
I learned about CF through television ads, “back in the day,” which explained that the disease is like drowning on the inside as mucus clogs the lungs of patients and makes breathing very difficult. Those ads made no mention of the six foot rule (it prevents cross-infection between patients) so I learned something from the movie too, even if it did generate a great deal of controversy, and backlash for its marketing campaign.
But whether or not people liked the film, it did bring attention to a disease that isn’t typically portrayed in pop culture. According to Cystic Fibrosis Canada, “one in every 3,600 children born in Canada has CF. More than 4,300 Canadian children, adolescents, and adults with cystic fibrosis attend specialized CF clinics.” In the U.S. more than 30,000 people have CF and worldwide that number is 70,000, making it a rare disease. (A rare disease is defined as a condition that affects fewer than 200,000 people. February 29 is Rare Disease Day. Learn about the day, how to get involved and what awareness events are taking place near you, here.)
Although many rare diseases are not household names, CF does have name recognition and significant funding flowing into research. There has been progress in treating it using 3D tissue culture grown with patients’ own cells, a drug screening tool, and, in October 2019, Vertex Pharmaceuticals received approval for its new CF drug called Trikafta.
As reported in Stat, “Food and Drug Administration Commissioner [FDA] Ned Sharpless said the approval makes ‘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.’”
Trikafta, with a list price of US$311,000 per year, is a triple combination regimen available to patients 12 years and older with a type of genetic error called an F508del mutation. The FDA says it should cover 90 per cent of the U.S. patients. Vertex’s previous drug, Kalydeco, was suitable for six per cent of Americans living with CF. The disease is complex because it has more than 300 known disease-causing mutations.
Dr. Mike Boyle, senior vice president of therapeutics development with the Cystic Fibrosis Foundation, an early funder of Vertex’s research, describes Trikafta as “transformative.” The Vertex CF story is a remarkable one, as reported by Adam Feuerstein at STAT. Read it here.
The Hospital for Sick Children also claims a significant role in the progress made to understand and treat CF, and CCRM has supported SickKids by creating a bank of induced pluripotent stem cell (iPSC) lines from 100 CF patients and correcting the point mutations in the CFTR gene in a subset of those lines.
In more good news for patients, the Cystic Fibrosis Foundation announced a US$500 million cures initiative that would focus on the remaining 10 per cent of patients that Trikafta can’t help. The Path to a Cure will fund basic research and clinical programs.
Watch the Cystic Fibrosis Foundation explain its Path to a Cure.
Stacey Johnson
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