ABSTRACT
[Introduction and Aim] In Europe, Australia, and North and South America, enzyme replacement therapy (ERT) at home is a common practice for patients with lysosomal diseases. In Japan, on the other hand, patients need to visit a specialized hospital every one to two weeks for regular ERT. For the past 10 years, we have been proposing to the government, authorities, and academic societies to realize ERT at home, and under the circumstances of the spread of the COVID-19 in 2020, the need for ERT at home has increased. The purpose of this study was to investigate the patient burden of ERT in Japan for patients with lysosomal diseases (Fabry disease, Gaucher disease, Pompe disease, and MPS) who belong to four major lysosomal disease patient groups in Japan, and to clarify the need for enzyme replacement therapy at home. [Results] In January 2021, we conducted a questionnaire survey of lysosome disease patients and their families via four lysosome disease patient organizations (194 patients in total). Among the patients with lysosomal disease, 57% of them needed to be accompanied by their families. In addition, it took about 40 min each way to visit a specialized hospital and 246 min to stay in the hospital. In Japan, 67% of the patients preferred to receive ERT at a place other than a specialized hospital (home, clinic, school, office, etc.). [Conclusions] It is clear that lysosomal disease patients and their families in Japan are burdened by ERT. As a result of our work to date, in March 2021, 11 enzymes approved in Japan for lysosomal disease will be available for use by home physicians. Were approved to be administered by nurses under the direction of home physicians.