The majority of families with patients with Pompe disease (PD) in China suffer from catastrophic health expenditure, according to a study published in the International Journal of Health Policy and Management.

“Our study highlighted the alarmingly high disease burden faced by PD patients with first-hand patient-reported evidence,” wrote Shanquan Chen, of the University of Cambridge in the United Kingdom, and colleagues.

To better understand the economic burden of PD and provide evidence-based suggestions for improvements in policy, researchers conducted a study using data from a nationally based cross-sectional survey on rare diseases in early 2018 in China.

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The researchers used the answers of 92 patients with PD to develop policy simulations for 2 reimbursement patterns, 1 based on dosage and the other based on cost. Of these 92 patients, 24 were children, and 68 were adults. 

The results showed that the families with children affected by PD had lower annual household incomes compared to those with adults with the disease. These data also showed the direct medical and out-of-pocket expenses of families with children with the disease were almost twice those of families with adult patients.

Notably, the direct nonmedical expenses of families with children affected by PD were nearly 6 times higher than families with adult patients with PD. Around 88.24% of families with children with PD had catastrophic health expenditures, and 67.21% of families with adult patients had catastrophic health expenditures.

Similarly, around 84.21% of families with children with PD had to live in poverty because of the disease, and 45.9% for families with adult patients PD had to live in poverty because of the disease. 

The simulation showed that both reimbursement schemes helped reduce catastrophic health expenditures. However, they had almost no effect on reducing impoverishment due to illness. The researchers also reported that the dosage-based model was more sensitive to changes in policy parameters.

“Our series of simulations could be a good reference for China and other countries to improve their reimbursement policy regarding PD,” the researchers wrote.


Chen S, Dong D. Improving insurance protection for rare diseases: Economic burden and policy effects-Simulation of people with Pompe disease in China. Int J Health Policy Manag. Published online November 24, 2022. doi:10.34172/ijhpm.2022.6282