Cystic fibrosis (CF) is not as simple as those unfamiliar with the disease may think. There are more than 1,700 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can cause CF. 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.
While other classes of CF have seen hallmark discoveries and continue to see a growing pipeline of potential therapies, those with Class 1 mutations are still waiting for their new class of CFTR medications. We spoke to Amanda Boone about her identity as a CF patient and her thoughts about the trial landscape for those with nonsense mutations, like herself.
Amanda is a thirty-five-year-old CF advocate now living in Colorado Springs, CO, with her husband and son. Amanda’s hobbies include cooking, reading, hiking and being outdoors with her family. She loves Zumba and in the past when she had better lung function, she enjoyed dancing. Previously, Amanda lived in Texas where she was heavily involved with the local CFF chapter in Austin.
Amanda is passionate about being the best mom she can be to her son and securing his future. Within the CF community, Amana told us that “[she feels] strongly about healthcare issues and advocating for oneself.” When talking to Amanda about what it’s like to be someone with a Class 1 mutation, she highlighted a comparison told to her by one of her friends with a similar mutation: it’s like the boat is sinking, but there are no lifeboats for those with her mutation. This comparison underscores how the CF and research communities have found significant advancements in other genetic mutations and how Amanda’s mutation has found little to no advancement. When the community discusses how all of these amazing medications are coming out, we tend to forget that the CF community is more diverse than we think.
“I’m passionate about trying to do everything you can to beat this disease, exercise is so important. The CF Foundation in Austin now has a fundraising event called Dance to Breathe.” Amanda’s story inspired her dance studio owner and now he presents a “huge production” every year. The tickets sold raise money for the CF Foundation. Amanda discussed how her declining lung function has caused her to make life changes, but her advocacy and investment in the CF community continues to inspire and lead to positive change for the entire CF community.
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.
Cystic Fibrosis (CF) is complex disease with thousands of mutations present in the community. Those with less common, or nonsense mutations, find themselves underrepresented in the research pipeline. We talked to CF patient and advocate Ella Balasa about her identity as a CF patient with a nonsense mutation, and her outlook on her future.
Ella is a twenty-five-year-old who loves to travel and works as a microbiology lab technician in Richmond, VA. When not in the lab, Ella dedicates her time to writing and publishing blog posts and articles to support others that face similar challenges in fighting CF. Her blogs and columns focus on personal topics related to having CF including the physical and emotional reality of her condition and the hope she has for the future. In addition to being an excellent writer, Ella is also a gifted artist. Her recent project, a drawing symbolizing a CF lung made of tree branches with roses on them, resembles the hopeful life of CF patients despite hardships faced.
When asked her perspective on clinical trial design and the research pipeline, Ella provided a unique perspective. “Primarily, [she] wants companies to understand that not all patients are the same.” People with CF experience CF in so many ways. For some patients, a low 30% FEV1 might mean constant supplemental oxygen and no mobility, for another, it might just be difficulty with strenuous activity. CF is not merely dictated by the numbers. Ella believes that this is an example of things to consider when recruiting patients.
Ella is most excited about the rapid development of cystic fibrosis transmembrane (CFTR) modulators and anti-infective treatments. However, she commented on the difficulty of finding these trials across the country. As a dedicated advocate, Ella hopes to increase awareness of clinical trials for CF patients with rare mutations (patients who are not on CFTR modulators). “Although we haven’t received that break or tangible hope for a longer future, we won’t give up and we are confident it’s coming soon.”
Lastly, when asked what the first thing Ella would do if her CF were cured, she stated that she’d “do many physical activities that [she’s] unable to now; recreational sports, take dance classes, snowboard, and rock climb, to name a few.”
Reid D’Amico is a National Science Foundation (NSF) Graduate Research Fellow in Biomedical Engineering at Vanderbilt University. His research focuses on modeling Pulmonary Hypertension with microfluidic devices. Reid serves as a Director for the US Adult Cystic Fibrosis Association (USACFA), where he chairs their clinical trials committee and speakers bureau. He also serves on the editorial review board and therapeutic development network committee at the Cystic Fibrosis Foundation. Reid is actively working to ensure adequate healthcare coverage and visibility of rare diseases.