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Lookup NU author(s): Professor Grainne Gorman, Professor Bobby McFarlandORCiD, Dr Aye Moe, Dr Yi NgORCiD
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BACKGROUND AND OBJECTIVES: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders. METHODS: This cross-sectional multicenter observational study used data provided by 26 mitochondrial disease centers from 8 countries from January 2022 to March 2023. Individuals with genetically confirmed mitochondrial disorders were included, along with patients with clinically or genetically diagnosed Leigh syndrome. Collected data included demographic and genetic diagnosis variables, clinical phenotype, involvement of organs and systems, conditions leading to death, and supportive care. We defined pediatric and adult groups based on age at death before or after 18 years, respectively. We used Kruskal-Wallis with post hoc Dunn test with Bonferroni correction and Fisher exact test for comparisons, Spearman rank test for correlations, and multiple linear regression for multivariable analysis. RESULTS: Data from 330 deceased individuals with mitochondrial disorders (191 [57.9%] pediatric) were analyzed. The shortest survival times were observed in hepatocerebral syndrome (median 0.3, interquartile range [IQR] 0.2-0.6 years) and mitochondrial cardiomyopathy (median 0.3, IQR 0.2-5.2 years) and the longest in chronic progressive external ophthalmoplegia plus (median 26.5, IQR 22.8-40.2 years) and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (median 21.0, IQR 13.8-28.5 years). Respiratory failure and pulmonary infections were the most common conditions associated with death (52/330, 15.7% and 46/330, 13.9%, respectively). Noninvasive ventilation was required more often in children (57/191, 29.8%) than adults (12/139, 8.6%, p < 0.001), as was nasogastric or gastric tube (131/191, 68.6% in children and 39/139, 28.1% in adults, p < 0.001). On multivariate analysis, individuals with movement disorders and nuclear gene involvement had increased odds of any respiratory support use (OR 2.42 (95% CI 1.17-5.22) and OR 2.39 (95% CI 1.16-5.07), respectively). DISCUSSION: This international collaboration highlights the importance of respiratory care and infection management and provides a reference for prognostication across different mitochondrial disorders.
Author(s): Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S, Cheuk-Wing F, Wong T-S, Belaramani K, Chan C-K, Chan W-K, Chan W-LL, Cheung H-W, Cheung K-Y, Chang S-K, Cheung S-N, Cheung T-F, Cheung Y-F, Chong S-CJ, Chow C-KJ, Chung H-YB, Fan S-YF, Fok W-MJ, Fong K-W, Fung T-HS, Hui K-F, Hui T-H, Hui J, Ko CH, Kwan M-C, Kwok M-KA, Kwok S-SJ, Lai M-S, Lam Y-O, Lam C-W, Lau M-C, Law C-YE, Law H-F, Lee W-C, Hencher Lee H-C, Leung K-H, Leung K-Y, Li S-H, Ling T-KJ, Liu K-TT, Lo F-M, Lui C, Luk C-O, Luk H-M, Ma C-K, Ma K, Ma K-H, Mew Y-N, Mo A, Hg S-F, Poon W-KG, Sheng B, Szeto C-LC, Tai S-M, Tang J-L, Tse C-TA, Tsung L-YL, Wong H-MJ, Wong W-YW, Wong K-K, Wong S-NS, Wong C-NV, Wong W-SS, Wong C-KF, Wu S-P, Wu H-FJ, Yau M-M, Yau K-CE, Yeung W-L, Yeung H-MJ, Yip K-KE, Wu H-J, Young P-HT, Yuan G, Yuen Y-PL, Yuen C-L
Publication type: Article
Publication status: Published
Journal: Neurology
Year: 2025
Volume: 104
Issue: 4
Print publication date: 25/02/2025
Online publication date: 30/01/2025
Acceptance date: 14/11/2024
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Wolters Kluwer Health
URL: https://doi.org/10.1212/WNL.0000000000209779
DOI: 10.1212/WNL.0000000000209779
PubMed id: 39883904
