visits explored the utility of telemedicine among a primary care clinic, finding improvements in access to care, especially in those located far from clinic sites. 30 Others have explored the utility of telehealth in areas with similar geographical terrain as WV, such as rural Tennessee and Kansas, finding satisfaction among patients, with visits rated equivalent or better than in-patient visits. 28 Telemedicine improved access to CF care in more than 90 % of patients attending scheduled telemedicine appointments. 31, 32 Tagliente et al took this one step further, analyzing cost-analysis with telemonitoring implantation, specifically in relation to CF care over a 10-year period. 33 Substantial cost savings of $ 44,372 were actualized with improvements in health in those with CF. 33 WV’ s unique geographical terrain provides an opportunity for telemedicine in the delivery of CF care, while also providing significant savings for those affected by the disease. The Mountain State CF Center utilizes telemedicine, with an average of 0.5 telehealth visits per patient per year. 18 Although low, this is greater than the national average, which averages 0.4 telehealth visits per patient per year reported by other CF centers. 18 A spike in telehealth visits of 0.9 was noted in 2020 at our program, likely secondary to the COVID-19 pandemic. 18 Further utilization of telehealth programs should be considered as a solution to geographical barriers faced by Appalachian patients. Jessup et al further explored the role of geographical isolation in patients with CF localized to rural areas, finding difficulties in“ accessing expert care” were further highlighted in rural areas. 34 Other disparities noted by patients included“ provider trust” and“ inclusive care.” 34 These studies highlight the importance of resources allocated to geographically isolated areas and cognizance of this patient population, including those in WV.
As quality of life improved, care for CF in rural areas lagged, including WV. 25 Early diagnosis is essential, leading to reduction of pulmonary progression and improvement in nutritional status. 1 At the Mountain State Cystic Fibrosis Center, the adult CF program diagnoses multiple cases of CF annually.
MANAGEMENT UPDATES
AND FUTURE DIRECTIONS
Absolute Change from Baseline in Percantage of Predicted FEV 1
15 13 14 12
10 11 9 8 7 6 5 4 3 2
-1 0
1
-2-3
Medications targeting class I mutations are yet to be approved by the US Food and Drug Administration( FDA). However, a breakthrough in CF treatment was achieved with FDA approval of combination elexacaftor / tezacaftor / ivacaftor( ETI) in 2019, all targeting Phe508del. 6, 8, 9, 35 Elexacaftor and tezacaftor both assist with CFTR channel protein folding, whereas ivacaftor increases permeability of the chloride channel, leading to improvements in lung functionality and nutrition. 8, 36 Triple therapy has demonstrated adequate therapeutic response in a larger patient population and 90 % of patients with CF will qualify for highly effective CFTR modulator therapy. 8 Future studies should focus on therapeutic options for less-common CFTR variants. Significant advancements in CF care have led to increased life expectancy and quality of life. 7 CF can be categorized by CFTR mutation type and further classified by CFTR protein dysfunction, including detective protein production, defective protein processing, defective regulation, defective conduction, reduction in protein amount, and reduction in protein stability. 7 Clinical course varies, and class I through III mutations are thought to correlate with more severe disease course( Table 1). 7 First observed in a randomized control trial in 2010, Accurso et al found an 8.7 % improvement of forced expiratory volume in 1 second( FEV1) after introduction of ivacaftor in those with a G551D mutation. 37 Randomized control studies found an 8.6 % improvement in lung function in patients with a Phe508del mutation. 37 Further studies explored ivacaftor use with combination therapy lumacaftor and tezacaftor, only finding benefit in those with a Phe508del mutation. 8 However, in 2019, a landmark study by Middleton et al found improved predicted FEV1, quality of life, and reduction in rate of exacerbations with combination therapy ETI in individuals with a single Phe508del( Figure 3A and 3B). 35
Roughly 90 % of CF patients are known to have a Phe508del mutation, making this therapeutic regimen highly effective. 35 Similar to other modern therapies, cost is a barrier. Per year, ETI costs $ 300,000, whereas production is roughly $ 5,000. 38 This is not sustainable, especially for WV, as the state’ s median household income
FIGURE 3A: Percentage of Predicted FEV 1
, According to Visit
Elexacaftor-tezacaftor-ivacaftor
Baseline Day 15 Wk 4 Wk 8 Wk 12 Wk 16 Wk 24
Statistically significant improvement in FEV1 post-treatment with ETI. 35
West Virginia Medical Journal • December 2025 • 15