Preliminary investigation on the economic cost of mitochondrial disease in Chinese children

Abstract Background The prevalence of mitochondrial diseases is increasing, leading to a significant economic burden on families and society. However, nationwide cost data on their effects on China’s economy remain limited. This study aimed to investigate the economic cost of mitochondrial diseases...

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Main Authors: Chaolong Xu, Dan Zhao, Xin Duan, Zhimei Liu, Tongyue Li, Yunxi Zhang, Zixuan Zhang, Tianyu Song, Ying Zou, Huafang Jiang, Fang Fang
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03708-1
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author Chaolong Xu
Dan Zhao
Xin Duan
Zhimei Liu
Tongyue Li
Yunxi Zhang
Zixuan Zhang
Tianyu Song
Ying Zou
Huafang Jiang
Fang Fang
author_facet Chaolong Xu
Dan Zhao
Xin Duan
Zhimei Liu
Tongyue Li
Yunxi Zhang
Zixuan Zhang
Tianyu Song
Ying Zou
Huafang Jiang
Fang Fang
author_sort Chaolong Xu
collection DOAJ
description Abstract Background The prevalence of mitochondrial diseases is increasing, leading to a significant economic burden on families and society. However, nationwide cost data on their effects on China’s economy remain limited. This study aimed to investigate the economic cost of mitochondrial diseases in Chinese children, analyse the relevant influencing factors, and provide a foundation for strategies to reduce the healthcare burden. Methods In this single-centre, cross-sectional study, an online questionnaire was randomly administered to paediatric patients diagnosed with mitochondrial diseases between January 2012 and January 2022. The questionnaire included questions regarding demographic data, clinical information, and expenditure-related costs. Multivariate analysis of economic cost was performed using a generalised linear gamma conjugate model (A1). Results The responses to 102 questionnaires were analysed. The median direct economic cost incurred for the diagnosis of mitochondrial disease was $8,520.19, with direct medical and non-medical costs of $6,769.06 and $2,092.98, respectively, and an indirect cost of $3,162.93. Healthcare insurance covers 27.29% of direct medical expenses. Multivariate analysis showed that the economic cost of diagnosing mitochondrial diseases was significantly correlated with the year of disease onset (P < 0.001). The median annual economic cost for treatment and symptom management after diagnosis was $12,292.79, with direct medical and non-medical costs of $10,887.53 and $1,360.44, respectively, and an indirect cost of $5,442.21. Healthcare insurance covered only 15.16% of direct medical expenses. No significant differences were observed between the subgroups after diagnosis and the annual economic costs of treatment or symptom management. Conclusion The study findings indicated that the economic burden of both the diagnosis and treatment of patients with mitochondrial diseases was substantial. Increased emphasis should be placed on primary and secondary prevention strategies to further reduce the overall economic burden of rare genetic diseases, such as mitochondrial diseases.
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spelling doaj-art-39ec4cae4bbf4039a7677b33db40ede72025-08-20T03:10:06ZengBMCOrphanet Journal of Rare Diseases1750-11722025-04-012011910.1186/s13023-025-03708-1Preliminary investigation on the economic cost of mitochondrial disease in Chinese childrenChaolong Xu0Dan Zhao1Xin Duan2Zhimei Liu3Tongyue Li4Yunxi Zhang5Zixuan Zhang6Tianyu Song7Ying Zou8Huafang Jiang9Fang Fang10Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthAbstract Background The prevalence of mitochondrial diseases is increasing, leading to a significant economic burden on families and society. However, nationwide cost data on their effects on China’s economy remain limited. This study aimed to investigate the economic cost of mitochondrial diseases in Chinese children, analyse the relevant influencing factors, and provide a foundation for strategies to reduce the healthcare burden. Methods In this single-centre, cross-sectional study, an online questionnaire was randomly administered to paediatric patients diagnosed with mitochondrial diseases between January 2012 and January 2022. The questionnaire included questions regarding demographic data, clinical information, and expenditure-related costs. Multivariate analysis of economic cost was performed using a generalised linear gamma conjugate model (A1). Results The responses to 102 questionnaires were analysed. The median direct economic cost incurred for the diagnosis of mitochondrial disease was $8,520.19, with direct medical and non-medical costs of $6,769.06 and $2,092.98, respectively, and an indirect cost of $3,162.93. Healthcare insurance covers 27.29% of direct medical expenses. Multivariate analysis showed that the economic cost of diagnosing mitochondrial diseases was significantly correlated with the year of disease onset (P < 0.001). The median annual economic cost for treatment and symptom management after diagnosis was $12,292.79, with direct medical and non-medical costs of $10,887.53 and $1,360.44, respectively, and an indirect cost of $5,442.21. Healthcare insurance covered only 15.16% of direct medical expenses. No significant differences were observed between the subgroups after diagnosis and the annual economic costs of treatment or symptom management. Conclusion The study findings indicated that the economic burden of both the diagnosis and treatment of patients with mitochondrial diseases was substantial. Increased emphasis should be placed on primary and secondary prevention strategies to further reduce the overall economic burden of rare genetic diseases, such as mitochondrial diseases.https://doi.org/10.1186/s13023-025-03708-1ChinaChildrenEconomic costsMitochondrial disease
spellingShingle Chaolong Xu
Dan Zhao
Xin Duan
Zhimei Liu
Tongyue Li
Yunxi Zhang
Zixuan Zhang
Tianyu Song
Ying Zou
Huafang Jiang
Fang Fang
Preliminary investigation on the economic cost of mitochondrial disease in Chinese children
Orphanet Journal of Rare Diseases
China
Children
Economic costs
Mitochondrial disease
title Preliminary investigation on the economic cost of mitochondrial disease in Chinese children
title_full Preliminary investigation on the economic cost of mitochondrial disease in Chinese children
title_fullStr Preliminary investigation on the economic cost of mitochondrial disease in Chinese children
title_full_unstemmed Preliminary investigation on the economic cost of mitochondrial disease in Chinese children
title_short Preliminary investigation on the economic cost of mitochondrial disease in Chinese children
title_sort preliminary investigation on the economic cost of mitochondrial disease in chinese children
topic China
Children
Economic costs
Mitochondrial disease
url https://doi.org/10.1186/s13023-025-03708-1
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