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. 2023 May;22(3):436-442.
doi: 10.1016/j.jcf.2023.02.009. Epub 2023 Mar 13.

Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020

Elizabeth A Cromwell  1 , Joshua S Ostrenga  2 , Jonathan V Todd  2 , Alexander Elbert  2 , A Whitney Brown  2 , Albert Faro  2 , Christopher H Goss  3 , Bruce C Marshall  2
Affiliations

Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020

Elizabeth A Cromwell et al. J Cyst Fibros. 2023 May.

Abstract

Background: The Cystic Fibrosis Foundation Patient Registry (CFFPR) collects data on individuals with cystic fibrosis (CF) in the United States (US). In 2012, the US CF population was estimated at 33,292 to 34,327 individuals, with 81-84% CFFPR participation.

Methods: In this study, we update these estimates via simulation to account for uncertainty in CF incidence by race or Hispanic ethnicity, initiation of CF newborn screening (NBS) programs by state, and updated cumulative survival for CF births 1968-2020. We defined registry participation as the proportion of individuals alive as of 2020 with any prior CFFPR participation as well as the proportion with contributing data in 2019 or 2020; we summarize CFFPR participation for those born prior to 1968.

Results: We estimated the 2020 prevalent CF population between 1968-2020 to be 38,804 (95% Uncertainty Interval (UI): 38,532 to 39,065) individuals, with 77% of the prevalent CF population contributing recent data. CFFPR participation differs by age (54% of those born in 1968) and exceeds >90% of the population born in 2009 or later.

Conclusions: We demonstrate that the CFFPR remains a valid data source generalizable to the CF population. High participation among younger individuals may reflect the success of newborn screening programs and early referral to CF care. If engagement can be sustained, the percentage of individuals participating in the CFFPR will grow over time and there is an opportunity to identify factors associated with loss to follow up among older individuals to optimize the quality of the CFFPR data.

Keywords: Cystic Fibrosis; Population estimates; Registry.

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Conflict of interest statement

Conflict of interest statement The authors have no conflict of interest to disclose.

Figures

Fig. 1.
Fig. 1.
Flowchart to illustrate the estimation process.
Fig. 2.
Fig. 2.
Total CF births (median and 95% UI) predicted in simulation.
Fig. 3.
Fig. 3.
Total deaths (median and 95% UI) predicted in simulation.
Fig. 4.
Fig. 4.
Median proportion and 95% UI of individuals who participate in the CFFPR, by year of birth.
Fig. 5.
Fig. 5.
Median number and 95% UI of individuals with CF who did not participate in the CFFPR in 2019 or 2020, by year of birth.
See this image and copyright information in PMC

References

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