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COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study

Lookup NU author(s): Dr Chiara Pizzamiglio, Dr Rhys ThomasORCiD, Professor Grainne Gorman, Professor Bobby McFarlandORCiD, Professor Michael Hanna, Dr Robert Pitceathly



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. BACKGROUND AND OBJECTIVES: To identify factors associated with severe coronavirus disease 2019 (COVID-19), defined by hospitalization status, in patients with primary mitochondrial diseases (PMDs), thereby enabling future risk stratification and informed management decisions. METHODS: We undertook a cross-sectional, international, registry-based study. Data were extracted from the International Neuromuscular COVID-19 Database and collected between May 1, 2020, and May 31, 2021. The database included subjects with (1) PMD diagnosis (any age), clinically/histopathologically suspected and/or genetically confirmed; and (2) COVID-19 diagnosis classified as "confirmed", "probable", or "suspected" based on World Health Organization definitions. The primary outcome was hospitalization because of COVID-19. We collected demographic information, smoking status, coexisting comorbidities, outcomes after COVID-19 infection, and PMD genotype-phenotype. Baseline status was assessed using the modified Rankin scale (mRS) and the Newcastle Mitochondrial Disease Adult Scale (NMDAS). RESULTS: Seventy-nine subjects with PMDs from 10 countries were included (mean age 41.5 ± 18 years): 25 (32%) were hospitalized, 48 (61%) recovered fully, 28 (35%) improved with sequelae, and 3 (4%) died. Statistically significant differences in hospitalization status were observed in baseline status, including the NMDAS score (p = 0.003) and mRS (p = 0.001), presence of respiratory dysfunction (p < 0.001), neurologic involvement (p = 0.003), and more than 4 comorbidities (p = 0.002). In multivariable analysis, respiratory dysfunction was independently associated with COVID-19 hospitalization (odds ratio, 7.66; 95% CI, 2-28; p = 0.002). DISCUSSION: Respiratory dysfunction is an independent risk factor for severe COVID-19 in PMDs while high disease burden and coexisting comorbidities contribute toward COVID-19-related hospitalization. These findings will enable risk stratification and informed management decisions for this vulnerable population.

Publication metadata

Author(s): Pizzamiglio C, Machado PM, Thomas RH, Gorman GS, McFarland R, Hanna MG, Pitceathly RDS

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2022

Volume: 98

Issue: 14

Pages: 576-582

Print publication date: 05/04/2022

Online publication date: 21/02/2022

Acceptance date: 03/02/2022

Date deposited: 26/04/2022

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Wolters Kluwer Health


DOI: 10.1212/WNL.0000000000200240

PubMed id: 35190464


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Funder referenceFunder name
203105/Z/16/ Z
MR/S005021/1Medical Research Council (MRC)