Abstract

Objective: The aim of this study is to assess the extent of changes in the care of patients with lysosomal storage disorders (LSDs) during the COVID-19 pandemic and to determine which of these changes have been maintained in the post-COVID-19 era.

Patients and Methods: Data were analyzed from a single large Reference Center for Lysosomal Storage Diseases (the Regional Coordinating Center for Rare Diseases in Udine, Italy). Changes in patient care were assessed by comparing the pre-pandemic period (December 2019) with the post-pandemic period (December 2023), focusing on the proportion of patients who transitioned to home therapy and the use of telemedicine consultations.

Results: A total of 102 patients with LSDs followed at the Regional Coordinating Center for Rare Diseases were included in the analysis. Before the pandemic, 71 patients were receiving enzyme replacement therapy (ERT), with 55 treated in the hospital and 16 at home. During the pandemic, an additional 15 patients transitioned to home-based ERT, and only 2 later resumed hospital-based infusions. No adverse events were reported in the home setting. Telemedicine services were utilized by 53 out of 102 patients during the pandemic and by 47 out of 102 patients in the post-pandemic period.

Conclusions: The COVID-19 pandemic led to changes in the management of patients with LSDs, including an increase in home therapy and the implementation of telemedicine services. These changes have persisted in the post-COVID-19 era.