Invisible burden of COVID-19: enzyme replacement therapy disruptions

Abstract

Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or biweekly doses. Unfortunately, scheduled ERT during COVID-19 was disrupted. We considered the possibility of adverse outcomes caused by the disruption in the treatment of patients with lysosomal storage disorders. Methods During the COVID-19 pandemic, we conducted a questionnaire that was delivered via Internet to assess how this vulnerable patient group was affected by the pandemic in terms of their access to treatment and their disease-related symptoms. Results The questionnaire was filled out by 75 patients. There were 35 patients whose treatment dose was missed because of COVID-19. The most common reason for skipping treatment was not wanting to go to the hospital for fear of contracting COVID-19. These 35 patients missed a median of four doses of ERT (range: 1–16 dosages). Twenty-one patients (60%) claimed that they were affected physically by not taking ERT (20 mucopolysaccaridoses, 1 Fabry disease), whereas 14 (40%) did not. Conclusions Interruption of ERT during the COVID-19 pandemic may have significant consequences. It may be beneficial to switch to home treatment or reserve dedicated facilities. With proper planning and management, the treatment disruptions of this particular group can be avoided.

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries

“…As might be expected and in line with recent reports [ 3 , [5] , [6] , [7] , [8] , [9] , 11 ], HCPs noted that there had been some interruptions to treatment because of the COVID-19 pandemic; 38.0%, 32.6%, and 15.2% of respondents noted that <1%, 1–10%, or > 10–20% of patients, respectively, had missed infusions. A small proportion of HCPs reported that patients had missed >20–50% or > 50% of infusions (4.3% and 5.4% of respondents, respectively).…”

“…Other factors noted by respondents as free text entries included psychiatric effects, stress and fear, access to vaccination, continued treatment, optimum care, disease surveillance and disease management, and access to school, social, and community services. The concerns noted by HCPs for their patients in this survey appear to align with the results of published patient surveys [ [3] , [4] , [5] , [6] , [7] , [8] , [9] ]. Furthermore, most respondents were concerned that the risks associated with contracting COVID-19 for patients with LSDs may be higher than for the general population; 47.8% of respondents were ‘somewhat concerned’ and 34.8% of respondents were ‘greatly concerned’; however, 17.4% of respondents were ‘not concerned’ that risks may be higher in this patient population.…”

“…The impact of missed infusions and the need to switch to oral therapies may also be low because of the availability of home infusions in some regions. Several publications have reported minimal disruption to treatment for patients receiving home infusions during the COVID-19 pandemic and have suggested that home therapy should be considered, if possible, to minimize interruptions and to ensure continued treatment during disruptive periods such as those caused by a global pandemic [ 3 , 5 , [7] , [8] , [9] , 13 , 17 ].…”

“…Current disease-specific standard of care for the treatment of LSDs includes intravenous enzyme replacement therapy (ERT), substrate reduction therapy, and pharmacological chaperones [ 2 ]. In the context of the coronavirus disease 2019 (COVID-19) pandemic, published patient surveys suggest that COVID-19 has had a negative impact on mental health and access to continued care and treatment among patients with LSDs [ [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] ]. The associated changes in clinical practice and in the needs of healthcare professionals (HCPs) in this evolving environment, however, have not been explored.…”

Impact of SARS‐CoV‐2 (COVID‐19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre

“…agalsidase beta and agalsidase alfa for Fabry disease; imiglucerase and velaglucerase alfa for Gaucher disease; alglucosidase alfa for Pompe disease) intravenous infusions. Disruptions in treatment, either intentional or forced by unavoidable events, can potentially lead to a deterioration of clinical parameters and quality of life and could lead to potential adverse outcomes, such as cardiac events and/or decline of renal function in Fabry patients, visceromegaly and bone crisis in Gaucher patients, worsening of respiratory function and walking capacity in Pompe and MPS patients 27–31 …”