Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Apr 10;20(1):172.
doi: 10.1186/s13023-025-03708-1.

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

Chaolong Xu  1 , Dan Zhao  1 , Xin Duan  1 , Zhimei Liu  1 , Tongyue Li  1 , Yunxi Zhang  1 , Zixuan Zhang  1 , Tianyu Song  1 , Ying Zou  1 , Huafang Jiang  2   3 , Fang Fang  4
Affiliations

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

Chaolong Xu et al. Orphanet J Rare Dis. .

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.

Keywords: Children; China; Economic costs; Mitochondrial disease.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: The methodology section of this manuscript includes the approved reference number ([2022]-E-121-Y) from the Ethics Committee of Beijing Children’s Hospital affiliated with Capital Medical University. The principal author has received consent forms from the participants in this study and has them on file. Consent for publication: As indicated above in the section: Ethics approval and Consent to participate. Competing interests: The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Distribution of the study patients with mitochondrial diseases
See this image and copyright information in PMC

References

    1. Wesol-Kucharska D, Rokicki D, Jezela-Stanek A. Epilepsy in mitochondrial Diseases-Current state of knowledge on aetiology and treatment. Child (Basel). 2021;8. 10.3390/children8070532. - PMC - PubMed
    1. Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis. 2015;38:437–43. 10.1007/s10545-015-9823-y. - PMC - PubMed
    1. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society. Genet Med. 2015;17:689–701. 10.1038/gim.2014.177. - PMC - PubMed
    1. Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, et al. Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res. 2019;4:201. 10.12688/wellcomeopenres.15599.1. - PMC - PubMed
    1. McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, et al. Hospitalizations for mitochondrial disease across the lifespan in the U.S. Mol Genet Metab. 2017;121:119–26. 10.1016/j.ymgme.2017.04.007. - PMC - PubMed

Supplementary concepts

LinkOut - more resources