As one of the approximately 10% of people with cystic fibrosis who are ineligible for or can’t tolerate CFTR modulators, I was incredibly excited to envision our future through watching the North American CF Conference’s Plenary 1, presented by Drs. Thompson and McCray. Better yet, I was excited to envision the future of all CF patients because the potential gene therapies discussed take a mutation-agnostic approach, allowing the therapies to be used in all CF patients, regardless of mutation.
The first portion of the plenary focused on sickle cell disease, a devastating disease affecting millions of people. Sickle cell disease has parallels with cystic fibrosis in its genetic basis. Both sickle cell disease and cystic fibrosis are autosomal recessive conditions that are caused by DNA mutations resulting in defective protein production. There are several genetic therapy clinical trials for sickle cell disease and another blood disorder called beta thalassemia. These treatment advances truly show the potential of genetic therapy in treating so many conditions — including CF!
Cystic fibrosis had no known treatments in 1938, when Dr. Dorothy Andersen first characterized CF. It wasn’t until 1989 that the CFTR gene was discovered. Fast forward to today — now we are exploring the many ways that we can correct that gene and restore function to the CFTR protein.
According to Dr. McCray, genetic therapies may be pursued for cystic fibrosis through gene addition, adenine base editing, and super-exon insertion.
While I’d love nothing more than to dive into the scientific details, I’ll sum it up into one key takeaway: every aspect of genetic therapy for cystic fibrosis patients is being researched.
Researchers are laser-focused on effective delivery methods, airway anatomy, key CFTR expressing cells, viral and non-viral delivery vectors, and so much more. As a physician assistant, I see a future of advancing medical treatments and incredible research potential. But more importantly, as a patient, I see the ongoing fulfillment of the promise that the CF community made — to keep going until 100% of us have a treatment.
Since Trikafta® was approved in October 2019, I have maintained hope in that promise that the CF community and CF Foundation made to us. I have participated in research studies and clinical trials since I was a child with the hope that my dedication, coupled with the dedication of the entire CF community, will result in a cure. The 2023 NACFC Plenary 1 is confirmation that there is significant momentum in genetic therapies being developed. There are many challenges still ahead, but this proof is the basis for my unrelenting hope that one day CF will stand for Cure Found.
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