“Even if you have a CFTR medication available, we all want something else.”
Some with cystic fibrosis (CF) have seen incredible momentum in clinical trials and therapeutic development, while others with more rare CF mutations may feel as if they are being left behind. We talked to Stacy Carmona about her identity as a CF patient and her thoughts about the current clinical trial landscape for those with nonsense mutations.
More than 1,700 different mutations in the CFTR gene that can cause CF have been discovered. These mutations are grouped into 5 different classes. Nonsense mutations include Class 1 mutations, characterized by the inability to create functional CFTR. Currently, there are no CFTR modulators available for this group of mutations and development of potential modulators has been much more challenging than for other groups.
Stacy is a thirty-one-year-old director of CF patient advocacy at Kroger Specialty Pharmacy. She lives in Orange County, CA with her husband and two dogs. Stacy’s hobbies include trying new restaurants, watching movies, and working out. She is passionate about travelling, personal time with family and friends, food, and being active. She is a powerful CF advocate and motivational speaker within the CF community. Stacy, who herself has nonsense mutations has an “insider” perspective on what it’s like to live with that situation.
As a patient advocate, she presents a distinct view on CF medications. Stacy says, “Even if you have a CFTR medication available, we all want something else.” Most of the current CFTR modulators now available don’t obviate the need for the hours of therapies and dozens of medications taken by all with CF. The battle isn’t over and we need to advance treatments for all CF mutations. Non-CFTR modulating medications are a win for the entire CF community. While those with CF can be categorized by mutation, in her work, she has seen a wide range of responses to the highly celebrated CFTR medications and it doesn’t mean they’ll find tremendous improvement in their health. With CF we need to remember the value of medications that are agnostic of mutation. Not only will they help those with nonsense mutations, but also those with more common mutations.
Stacy believes we should adjust how we talk about groundbreaking treatments. Instead of merely celebrating the win of improved FEV1, we should also be studying and reporting the ability to make CF more stable. She concludes that there is incredible value in adding stability to the health of those with CF.
Stacy Carmona is dedicated to CF advocacy and helping those with CF gain visibility and access to medications. Through her work, Stacy educates patients at Kroger about the current landscape of CF medications, with the hope that the whole CF community (those with common to rare mutations) will see improved therapies that help stabilize and improve their health.