Israeli researchers have discovered that despite coronavirus disease 2019 (COVID-19) restrictions in Israel and the complexity of care for lysosomal storage disorders (LSDs) such as lysosomal acid lipase deficiency (LAL-D) and Pompe disease, high rates of treatment adherence and low morbidity have been maintained among LSD patients, according to a study published in the Orphanet Journal of Rare Diseases.

In Israel, the first patient with COVID-19 was diagnosed in February 2020. From March until May 2020, the Israeli government imposed strict lockdown and social distancing measures. Some of these restrictions were eased in May 2020, but spikes in cases prompted additional lockdowns from September to October 2020 and from December 2020 until February 2021. In December 2020, as vaccines became available, Israel began its highly successful vaccination program.

The researchers of this study set out to determine if the restrictions resulted in a decrease in the quality of care for patients with LSD in Israel. They recruited 48 LSD patients from 4 Israeli medical centers and asked them to fill out a questionnaire regarding their treatment experience. Twenty-six patients (55%) were treated with enzyme replacement therapy (ERT), 15 (31%) received oral therapies, and 7 (14%) had no regular therapies.

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The study found that 31 of 38 patients (82%) who received regular treatment of any kind did not miss their treatment during the pandemic. For patients receiving ERT in a hospital setting, only 5 (20%) reported any kind of disruption to their treatment. The study also examined the psychological impact of COVID-19 restriction measures; it found that 7 of 48 patients (14.5%) reported mood changes, with cognitive and motor deterioration when home quarantine was required.

The authors of the study concluded, “This study on LSD patients showed relatively undisrupted care during the COVID-19 pandemic in Israel.” This is due to high adherence to LSD treatment, whether at home or in a hospital setting.

It is well known that patients with significant comorbidities are more vulnerable to COVID-19 morbidity and mortality. LSD is a group of diseases that cause multisystem involvement and severe disease in some patients. There are a variety of established treatments for LSDs, including ERT, stem cell transplantation, and oral medication. However, all LSD patients need supportive therapy, such as physical therapy.


Kristal E, Pode-Shakked B, Hazan G, et al. The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel. Orphanet J Rare Dis. 2021;16(1):379. doi:10.1186/s13023-021-02007-9