At the age of 1, Katherine Fielding was diagnosed with cystic fibrosis, a rare genetic disease that causes severe damage to the lungs, pancreas, and other organs. Cystic fibrosis affects about 30,000 people in the U.S., causing persistent lung infections and limiting the ability to breathe over time.
In this video from NPC’s Innovation Matters series, Fielding, a patient advocate, discusses how the invention of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies has changed her life and how more innovation is needed to help CF patients for whom the current modulators do not work.
I consider the most important biopharmaceutical innovation in the past 20 years to be genetic modulators for cystic fibrosis. They have impacted a huge portion of the CF population allowing better day-to-day quality of living experiences for people with CF, as well as better medical outcomes. It's just been really revolutionary to my community.
Innovation improves patient health
The modulators therapies have had a huge impact on my day-to-day life. I have my lung capacity or lung function, which is a big indicator in the CF patient world, has gone from about 50% up to the mid-70s, so I've gained about a quarter of lung function back that I had lost over the past 20 to 30 years.
The other thing that's been impactful is my sodium fluoride level of my sweat test, which is a main indicator for diagnosing CF. I’m in the now indeterminate range, so if I was to be tested for CF just based on sweat alone, it would be very unsure if I had CF or not. They would definitely have to go for genetic testing. So it's very exciting to have a lot of function happening and knowing that my sweat is not as salty as it used to be.
Also, some things that I used to experience like CF-related arthritis and CF-related diabetes are also now put on a shelf. I don't have to deal with those day to day. And also, I just sleep through the night. I don't cough at all anymore, and that's probably the biggest day-to-day experience. I don't cough it all, and I sleep through the night, which sounds small, but it's really huge.
The need for more innovation
There are still people waiting for innovation. About 10% of the CF Community does not qualify for the available modulators, so we need other innovations. Either maybe new modulators or perhaps some gene editing like CRISPR could have a solution for people. But we need more opportunities and options for those people.