The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China

Intractable Rare Dis Res 2021 Aug;10(3):190-197. doi: 10.5582/irdr.2021.01091.

PMID: 34466341

Jiahao Hu, Lin Zhu, Jiangjiang He

Highlights: The scope of drug reimbursement list and the reimbursement level should be further expanded and raised to help improve the living conditions of patients with LSDs.

Abstract

Background: Lysosomal storage diseases (LSDs) are a category of rare diseases that induce progressive physical dysfunction and organ failure, affecting the quality of life of patients.

Objective: The goal of this study was to look into the characteristics and use of Enzyme Replacement Treatments (ERTs), which is the only specific therapy for LSDs, among patients with four different LSDs (Gaucher, Fabry, Pompe disease, and Mucopolysaccharidosis) in Shanghai, and then to assess the financial burden and quality of life of these patients.

Results: The study comprised 31 individuals, 5, 14, 4, and 8 patients with Gaucher, Fabry, Pompe, and Mucopolysaccharidosis, respectively. Only five patients with Gaucher disease (GD) in Shanghai received Imiglucerase in 2019, whereas the other 26 patients with the other three LSDs did not receive ERTs, according to the findings. The high cost of Imiglucerase resulted in a total health expenditure of 2,273,000 CNY on average for GD patients. The other 26 individuals spent an average of 37,765 CNY on their health care. Though a cost-sharing system involving basic medical insurance, a charity fund, and patients was investigated in Shanghai for Gaucher disease, the out-of-pocket portion, which was 164,301 CNY, imposed a significant financial burden on the patients and their families. GD patients had a mean EQ-VAS score of 76.4 15.5, which was greater than the other three LSDs.

Conclusion: To assist improve the living conditions of patients with LSDs, it is proposed that the range of the drug reimbursement list and the reimbursement level be increased and raised.

Keywords: Rare diseases, disease burden, enzyme replacement treatment, lysosomal storage diseases, patient survey, quality of life