The impact of COVID-19 infection(s), pandemic and associated control measures on patients with Pompe disease

COVID-19 has affected the treatment, physical health and mental health of numerous patients with neuromuscular disorders, possibly related to a higher risk of more severe COVID-19 infection. Research assessing the impact of COVID-19 on patients with Pompe disease is limited. The aim of this study is to assess the perceived effect of COVID-19 infection and pandemic on the physical health and mental health in patients with Pompe disease. Patients with Pompe disease over 16 years of age participated in an international, cross-sectional, online survey (20-Sept-2022 – 07-Nov-2022). The questionnaire consisted of 3 parts: a) patients’ overall health with respect to Pompe disease, b) COVID-19 infection and precautions and c) the effects of the COVID-19 pandemic. We included 342 patients (median age 51 years (IQR 38-61)), originating from 25 different countries. Most patients received one or more COVID-19 vaccination(s) (95.3%), of whom 94.8% received all recommended doses. Almost half of all patients (47.6%) experienced one or more COVID-19 infection(s). While most recovered within 4 weeks (69.7%), 1 in 3 to 1 in 5 patients reported worsening of their overall condition, respiratory status and/or mobility status due to the infection. Patients took more stringent control measures at the beginning of the pandemic in 2020 (quarantine 67.3%) than during this study in 2022 (quarantine 9.0%), although these continued to be more common amongst more severely affected patients. The pandemic caused interruptions of enzyme replacement therapy in approx. 1 in 6 patients (range 1-24 infusions). As a result of the pandemic, 56% of patients reported a change in medical appointments and 28.7% of patients with care-giver help experienced reduced visits. The pandemic also affected many patients’ overall health (43.1%), mental health (55.4 %) and feeling of loneliness (43.4%). COVID-19 affected the treatment, physical health and mental health of patients with Pompe disease, emphasizing the importance of patient centered care during a difficult time as the COVID-19 pandemic. COVID-19 has affected the treatment, physical health and mental health of numerous patients with neuromuscular disorders, possibly related to a higher risk of more severe COVID-19 infection. Research assessing the impact of COVID-19 on patients with Pompe disease is limited. The aim of this study is to assess the perceived effect of COVID-19 infection and pandemic on the physical health and mental health in patients with Pompe disease. Patients with Pompe disease over 16 years of age participated in an international, cross-sectional, online survey (20-Sept-2022 – 07-Nov-2022). The questionnaire consisted of 3 parts: a) patients’ overall health with respect to Pompe disease, b) COVID-19 infection and precautions and c) the effects of the COVID-19 pandemic. We included 342 patients (median age 51 years (IQR 38-61)), originating from 25 different countries. Most patients received one or more COVID-19 vaccination(s) (95.3%), of whom 94.8% received all recommended doses. Almost half of all patients (47.6%) experienced one or more COVID-19 infection(s). While most recovered within 4 weeks (69.7%), 1 in 3 to 1 in 5 patients reported worsening of their overall condition, respiratory status and/or mobility status due to the infection. Patients took more stringent control measures at the beginning of the pandemic in 2020 (quarantine 67.3%) than during this study in 2022 (quarantine 9.0%), although these continued to be more common amongst more severely affected patients. The pandemic caused interruptions of enzyme replacement therapy in approx. 1 in 6 patients (range 1-24 infusions). As a result of the pandemic, 56% of patients reported a change in medical appointments and 28.7% of patients with care-giver help experienced reduced visits. The pandemic also affected many patients’ overall health (43.1%), mental health (55.4 %) and feeling of loneliness (43.4%). COVID-19 affected the treatment, physical health and mental health of patients with Pompe disease, emphasizing the importance of patient centered care during a difficult time as the COVID-19 pandemic.