When the U.S. Food and Drug Administration approved Trikafta® in 2019, many people asked me how I felt about it. I have a rare mutation and a nonsense mutation and am not eligible to take the drug. Of course, I was incredibly happy for all those people with cystic fibrosis who would benefit. Their quality of life improved greatly, and the number of hospitalizations and lung transplants decreased; it is a true miracle drug. It is not a cure, however, and it does not benefit everyone.
I will admit that a part of me wondered when a therapy would be available for those of us with nonsense and rare mutations. Little did I know, there is a village working on it, and they are making incredible progress.
This is what I learned from watching the first plenary, “Hope for All: Addressing the Needs of Those With Untreated CF Mutations,” at the 2022 North American Cystic Fibrosis Conference, which is taking place from Nov. 3-5 in Philadelphia. Drs. Steven Rowe, Michelle Hastings, and Rebecca Darrah discussed the research that is taking place for those with nonsense and rare mutations. Though much of what they discussed is very detailed from a scientific standpoint, the biggest takeaway for me is that there are options.
If you are unfamiliar with DNA and what it means to have a nonsense mutation, I highly suggest watching Dr. Darrah’s explanation toward the end of the plenary in which she compares DNA to a Philly cheesesteak recipe. Yes, that may sound odd, but the description was super helpful. (I also want a Philly cheesesteak now!)
The village, as I have dubbed the CF research community, is looking not only at cystic fibrosis, but the world of genetic diseases. They are identifying what is working in other disease areas and applying those lessons in the CF research arena — and they are seeing promising results. In addition to standalone therapies, they are working on therapies that would be used in conjunction with current modulators. Researchers are using cells from people with nonsense and rare mutations to test these therapies in the lab, and there are positive results. The goal is to create an uncompromised cystic fibrosis transmembrane conductance regulator (CFTR) protein that results in proper CFTR function.
The village is not resting on its laurels. They know there is great work to be done. They don’t just want to see people with CF lead fulfilling lives — they want them to lead lives without CF. One of the therapies discussed — messenger RNA therapy — looks promising. It would be for all people with CF, regardless of their mutations. Dr. Rowe mentioned that we seem to be at the same point with nonsense mutations that we were when researchers first learned that the F508del mutation responded to modulators in the lab. I can only hope that those of us with nonsense mutations will be eligible for a therapy soon that is as life changing as Trikafta has been. Several clinical studies are either already underway or will begin in the next few years.
This brings me hope. I was born in 1979, 10 years before the CF gene was identified. My parents were told the devastating news that I had CF and would likely not live to my teens.
I am 43 years old and have lived a better life than I could have imagined. I am incredibly grateful for the advancements in the treatment of CF. They have extended my life, allowed me to go to college, get married, and have a career. It is hard to put into words the emotions that I felt when I heard that the current life expectancy for people with CF born between 2017 and 2021 is 53 years — a new goal for me to reach.
I hope the research advancements discussed in this plenary also bring hope to the parents of our younger generation. I’m thinking of the McClains who were featured in a video during the plenary. Their 6-year-old daughter Abigail has CF, and she has two rare mutations. They hope she can one day get a treatment for her mutations and have the opportunity to live a full life and have a family of her own.
As the saying goes, “Rome wasn’t built in a day.” But we need to remember that it was built. I have no doubt that with perseverance, we will reach our goals. The Path to a Cure is just that — a path. Paths are not always smooth, and they can be long. We must have faith and be optimistic that we will reach our destination.
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