A ‘game-changer’ for cystic fibrosis patients

WCHRI study management team coordinates Edmonton clinical trials of ground-breaking treatment

Clinical trials of a breakthrough treatment for cystic fibrosis are being carried out in Edmonton and the two pulmonologists leading the local team believe it could be life-altering for their patients.

Tamizan Kherani, a pediatric pulmonologist, and Winnie Leung, an adult pulmonologist, are the local principal investigators in an Edmonton clinical trial of a new triple-combination therapy to treat patients with the most common cystic fibrosis mutation. They relied on WCHRI’s study management team to help them navigate the clinical trial process. 

Cystic fibrosis is the most common fatal genetic disease affecting Canadian children and young adults. Persistent lung infections and loss of lung function used to mean that many children with cystic fibrosis died in infancy. But over the last 25 years, new treatments to improve symptoms have resulted in a much better prognosis for most patients. The median age of survival in Canada is now 52.1 years. About 600 Albertans suffer from the disease.

The turning point in the understanding of cystic fibrosis came in 1989, when scientists discovered the cystic fibrosis gene—the cystic fibrosis transmembrane conductance regulator or CFTR gene. Cystic fibrosis patients have a gene mutation that causes the proteins on the surface of the cells to work improperly, or not at all, resulting in a build-up of thick, sticky mucus in the airways and digestive system. This, in turn, leads to repeated respiratory infections and digestive problems.

The breakthrough has been the development of a new class of drugs called CFTR modulators, which improve how the proteins function. “Right from the beginning, with these trials of CFTR modulators, our entire cystic fibrosis community has felt that these were going to be game-changers for our patients,” says Leung.

The Edmonton clinical trials, which started in 2017, have involved a total of 10 patients so far, aged 12 and older. Since there are many different cystic fibrosis gene mutations, investigators are trying to help the pharmaceutical company find the right combination of drugs that works for the most patients. There is hope that 90 per cent of cystic fibrosis patients may benefit from the treatment, which means fewer infections and fewer hospital admissions.

Kherani and Leung say their patients involved in the trials are optimistic about the future. The advances mean people with cystic fibrosis may live longer, says Kherani, but more importantly, “many of these patients feel that the quality of their lives is better, they actually have better energy, they can be involved in the things they want to do and be more active. They don’t have as many things holding them back.”

It’s gratifying to Kherani and Leung to be able to give this hope to their patients and families. Because cystic fibrosis is a chronic disease, as doctors they get to know their patients very well over time. “And so when we see these individuals have such an improvement in the quality of their lives, their ability to get over colds and other infections, it’s that much more rewarding to us as physicians,” says Leung.

“We see their struggles, we see their challenges and with these CFTR drugs, we can celebrate their successes.” 

Study management support for this project is funded by the Stollery Children’s Hospital Foundation.

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