In response to above post from shay:
Unlike nonsense mutations, the science for effective drugs for many of the rare missense mutations is there, but the FDA approval process hasn’t caught up with the science.
I have a missense mutation and I’ve been on off-label Kalydeco for 5 years. My R334W mutation hadn’t been included in studies.
I was able to get it off-label because I have excellent insurance coverage and my copay is very manageable with our income.
However, this isn’t the case for many. Those on Medicaid, Medicare are at a clear disadvantage in getting approval of an off-label drug at this cost. And some of those with commercial insurance, who have been approved, can’t afford the co-pay and have had to stop taking it. Vertex co-pay assistance programs can’t be used for off-label drugs.
So, in certain cases, there is an inequity in accessibility of these breakthrough drugs based on income level.
The provider from UCSF that is quoted in the article recently did research that showed that “In cystic fibrosis (CF), the spectrum and frequency of CFTR variants differ by geography and race/ethnicity. CFTR variants in White patients are well-described compared with Latino patients. No studies of CFTR variants have been done in patients with CF in the Dominican Republic or Puerto Rico.”
She states that:
"If people with different mutations aren't being included in those trials, they're never going to benefit. This is one of the challenges of personalized medicine: it only works if you are including diverse groups in your studies — otherwise it just reinforces existing racial and ethnic health inequality."
Her point is well taken. It’s so difficult to be patient when there is a medication that is sitting on shelves that could be saving lives, but it’s not accessible--not because it’s not expected to be effective--but because the mutations weren’t included in studies.
The approval process will eventually catch up with science, but the reality is that lives that could have been saved, will be lost while we wait. And that is a painful truth to acknowledge for both patients and providers.
I would hate to end with that statement because for me, this article captured the significance of Trikafta, and underscored this monumental development that much of the CF community can celebrate. I shared it will all my friends and family and wanted to share it with this cysticfibrosis.com community.
So, I’ll end with what I thought was one of the most powerful statements of the article.
“Doctors who began their careers at a time when there were few adults with cystic fibrosis because patients died in their teens are now cautiously anticipating that the disease will be transformed into a chronic condition, akin to diabetes, that can be managed with a drug regimen — particularly if Trikafta is eventually approved for use in younger children and babies, before any lung damage has occurred. 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."