Jonathan Guo1, Anna Garratt2, Andrew Hill3. 1. Faculty of Medicine, Imperial College London, United Kingdom. Electronic address: jyg17@ic.ac.uk. 2. Department of Medical Microbiology, Public Health Wales, United Kingdom. 3. Department of Pharmacology and Therapeutics, University of Liverpool, United Kingdom.
Abstract
BACKGROUND: Time has seen management for Cystic Fibrosis (CF) advance drastically, most recently in the development of the disease-modifying triple combination therapy ivacaftor/tezacaftor/elexacaftor. There is currently limited evidence regarding both the global epidemiology of CF and access to this transformative therapy - and therefore where needs are not being met. Therefore, this study aims to define gaps in access to CF treatment. METHODS: Patient data were extracted from established CF registries. Where these were not available, literature searches were conducted alongside an international survey of 51 CF experts to determine the diagnosed patient population. National CF prevalence estimates were combined with registry data on estimated population coverage, to extrapolate the total estimated number of undiagnosed patients. Estimates of ivacaftor/tezacaftor/elexacaftor treatment coverage were extracted from publicly available sales summaries and pricing data. RESULTS: 162,428 [144,606-186,620] people are estimated to be living with CF across 94 countries. Of these, an estimated 105,352 (65%) are diagnosed, with 19,516 (12%) receiving triple combination therapy. We estimated 57,076 patients with undiagnosed CF. Owing to a paucity of high-quality data, estimates of undiagnosed CF in low- and middle-income countries are highly uncertain. Patient registries were available in 45 countries, and used to identify 90% of the estimated diagnosed population. CONCLUSIONS: A significant CF patient burden exists in countries where disease-modifying drugs are unavailable, and final figures are likely underestimates. This analysis shows the potential to improve rates of diagnosis and treatment for CF, so a higher percentage of patients receive the most effective triple combination treatment.
BACKGROUND: Time has seen management for Cystic Fibrosis (CF) advance drastically, most recently in the development of the disease-modifying triple combination therapy ivacaftor/tezacaftor/elexacaftor. There is currently limited evidence regarding both the global epidemiology of CF and access to this transformative therapy - and therefore where needs are not being met. Therefore, this study aims to define gaps in access to CF treatment. METHODS: Patient data were extracted from established CF registries. Where these were not available, literature searches were conducted alongside an international survey of 51 CF experts to determine the diagnosed patient population. National CF prevalence estimates were combined with registry data on estimated population coverage, to extrapolate the total estimated number of undiagnosed patients. Estimates of ivacaftor/tezacaftor/elexacaftor treatment coverage were extracted from publicly available sales summaries and pricing data. RESULTS: 162,428 [144,606-186,620] people are estimated to be living with CF across 94 countries. Of these, an estimated 105,352 (65%) are diagnosed, with 19,516 (12%) receiving triple combination therapy. We estimated 57,076 patients with undiagnosed CF. Owing to a paucity of high-quality data, estimates of undiagnosed CF in low- and middle-income countries are highly uncertain. Patient registries were available in 45 countries, and used to identify 90% of the estimated diagnosed population. CONCLUSIONS: A significant CF patient burden exists in countries where disease-modifying drugs are unavailable, and final figures are likely underestimates. This analysis shows the potential to improve rates of diagnosis and treatment for CF, so a higher percentage of patients receive the most effective triple combination treatment.
Authors: Jane Lowers; Elisabeth P Dellon; Anne Stephenson; Robert Arnold; Andrew Althouse; Kwonho Jeong; Ethan Dubin; Jesse Soodalter; Cade Hovater; Marie Bakitas; Jessica Goggin; William Hunt; Sigrid Ladores; Kimberly Curseen; Gretchen Winter; George Solomon; Jonathan Ailon; Douglas Conrad; Dio Kavalieratos Journal: BMJ Open Respir Res Date: 2022-09