Worldwide rates of diagnosis and effective treatment for cystic fibrosis
File(s)
Published version
OA Location
Author(s)
Guo, Jonathan
Garratt, Anna
Hill, Andrew
Type
Journal Article
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.
Date Issued
2022-05
Date Acceptance
2022-01-19
Citation
Journal of Cystic Fibrosis, 2022, 21 (3), pp.456-462
ISSN
1569-1993
Publisher
Elsevier
Start Page
456
End Page
462
Journal / Book Title
Journal of Cystic Fibrosis
Volume
21
Issue
3
Copyright Statement
© 2022 The Authors. Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society.
This is an open access article under the CC BY-NC-ND license
(http://creativecommons.org/licenses/by-nc-nd/4.0/)
This is an open access article under the CC BY-NC-ND license
(http://creativecommons.org/licenses/by-nc-nd/4.0/)
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/35125294
PII: S1569-1993(22)00031-5
Subjects
CFTR modulator
Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator
Epidemiology
Ivacaftor/tezacaftor/elexacaftor
Treatment cascade
Trikafta
Publication Status
Published
Coverage Spatial
Netherlands
Date Publish Online
2022-02-04