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. 2022 Dec 9;17(1):430.
doi: 10.1186/s13023-022-02580-7.

Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study

Louis Soussand  1 , Mathieu Kuchenbuch  2   3 , Claude Messiaen  1 , Arnaud Sandrin  1 , Anne-Sophie Jannot  1   4   5 , Rima Nabbout  6   7   8
Affiliations

Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study

Louis Soussand et al. Orphanet J Rare Dis. .

Abstract

Background: Preliminary data suggest that COVID-19 pandemic has generated a switch from face-to-face to remote care for individuals with chronic diseases. However, few data are available for rare and undiagnosed diseases (RUDs). We aimed to assess the impact of the COVID-19 pandemic on the activities of the French reference network for RUDs in 2020.

Results: In this longitudinal retrospective study, we extracted and analyzed the data of the French national registry for RUDs collected between Jan 1, 2019 and Dec 31, 2020. We compared the annual longitudinal evolution of face-to-face and remote care activities between 2019 and 2020 focusing on adult and pediatric patients. Compared to 2019, rare diseases (RD) care activities showed a decrease in 2020 (- 12%) which occurred mostly during the first lockdown (- 45%) but did not catch up completely. This decrease was mainly in face-to-face care activities. Telehealth activities showed a 9-fold increase during the first lockdown and was able to cover for one third of the decrease in RD activities. Finally, the total number of patients receiving care was lower in 2020(- 9%) with a drastic decrease of cases with newly confirmed diagnosis (- 47%).

Conclusion: Although telehealth was quickly introduced during the COVID-19 pandemic, RUD patient care was strongly affected in France with a decline in the number of patients treated and new patients recruited. This is likely to result in delays in patient diagnosis and care over the next few years.

Keywords: COVID-19; Health policy; National health program; National health registry; Rare diseases; Telehealth.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Flow diagram for the selection of eligible sites for this study
Fig. 2
Fig. 2
Impact of COVID-19 pandemic on face-to-face care activities in 2020 and comparison with the same activities in 2019 in 522 RUDs reference sites. A. Total face-to-face care activities in 2019 (in red) and in 2020 (in black) in the paediatric and adult care. B. Evolution of the different face-to-face activities between 2019 and 2020, C. Evolution of the total number of face-to-face activities per week in 2020 (in blue) according to the health policies implemented to face COVID-19 pandemic (in the lower part), the number of deaths in 2020 due to COVID-19 pandemic per day (in black) and the face to face activities in the same centres in 2019 (in red). D. Comparison of face-to-face activities between 2019 and 2020 by centre according to the different periods of the health policies implemented in France during COVID-19 pandemic. ****p < 10–4, ***p < 0.001, **p < 0.01, *p < 0.05, $p < 0.1
Fig. 3
Fig. 3
Impact of COVID-19 pandemic on telehealth in 2020 and comparison with 2019 in 522 RUDs reference sites. A. Total telehealth activities in 2019 (in red) and in 2020 (in black) in paediatric and adult populations, B. Location of the telehealth activities developed in the different reference centres for RUDs throughout France, C. Evolution of the total number of telehealth activities per week in the year 2020 (in blue) according to the health policies implemented to face COVID-19 pandemic (in the lower part), the number of deaths in the year 2020 due to COVID-19 pandemic per day (in black) and telehealth activities in the same sites in 2019 (in red). D. Comparison of telehealth activities between 2019 and 2020 by centre according to the different periods of the health policies implemented in France during COVID-19 pandemic. ****p < 10–4, ***p < 0.001, **p < 0.01, *p < 0.05, $p < 0.1
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References

    1. COVID-19 Data Explorer - Our World in Data [Internet]. [cited 2021 Oct 3]. Available from: https://ourworldindata.org/explorers/coronavirus-data-explorer
    1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2019 28:2. 2019;28:165–173. - PMC - PubMed
    1. Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, et al. How many rare diseases are there? Nature reviews drug discovery 2021 19:2. Nat Publ Group. 2019;19:77–78. - PMC - PubMed
    1. Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum Mutat. 2012;33:803–808. doi: 10.1002/humu.22078. - DOI - PubMed
    1. Aymé S, Urbero B, Oziel D, Lecouturier E, Biscarat AC. Information on rare diseases: the orphanet project. Rev Med Interne. 1998;19(Suppl 3):376S–377S. doi: 10.1016/S0248-8663(98)90021-2. - DOI - PubMed

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