Pompe patients embraced at-home ERT infusions during pandemic

Switch to at-home infusions of enzyme replacement therapy when possible, researchers advise

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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The switch to at-home infusions of enzyme replacement therapy (ERT) — made necessary due to the COVID-19 pandemic — had a positive effect on people with Pompe disease and their families, a new study has found.

“Our data underline that new therapeutic solutions are possible for chronic diseases and that home ERT has a paramount positive effect both for patients and their families,” the researchers wrote.

Based on this finding, the scientists stressed the importance of offering at-home infusions when possible outside of emergency conditions.

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The study, “Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic,” was published in the journal Healthcare

Pompe disease is caused by mutations that impair the production of the acid alpha-glucosidase enzyme. ERT is a standard form of treatment that involves administering a functional version of this enzyme as therapy.

Two ERT therapies are currently approved to treat Pompe disease in the U.S.: Lumizyme (alglucosidase alfa) and Nexviazyme (avalglucosidase alfa). Both are sold by Sanofi. These therapies are administered via an infusion into the bloodstream every other week. Traditionally, infusions of ERT have been administered in healthcare settings.

As the COVID-19 pandemic enveloped the world, the fear of infection made many patients wary of visiting the hospital to get infusions. In Italy, for example, a special license allowing therapies like ERT to be administered at home was authorized in March 2020.

For this study, scientists at a center in Italy conducted a survey to understand the experiences of their patients during this transition.

The survey was answered by eight people with Pompe disease, and five individuals with other genetic diseases caused by enzyme deficiencies that have infusible ERTs available. The patients ranged in age from 5 to 54; in two cases, caregivers responded on behalf of the patient.

Overall positive impact

Responses showed that all but two respondents felt that switching to at-home infusions had an overall positive impact on their lives. Among the two outliers, one felt the switch hadn’t caused a substantial change, and one was unsure.  No one reported feeling that the switch had worsened their life overall.

All of the patients reported feeling satisfied with at-home ERT infusions, and all of them said they felt the switch had been better for their psychological health. Several patients also reported that the switch led to improvements with their physical health and/or familial relationships.

These improvements are especially remarkable considering that they occurred during the height of the COVID-19 pandemic, a time when many people — especially those with rare and chronic diseases — were experiencing a lot of stress and upheaval.

Most patients were happy with the support they had received from their center during the switch, though a few complained of delays due to bureaucracy.

As part of supporting patients during the switch, the center offered patients remote contact with a specialist who could help manage their symptoms and provide psychological support. Most patients said this support was valuable.

“Patients … stressed the usefulness and importance of the online psychological support, which offered human contact in the form of a specialist that listened to them and monitored their health state and was regarded as a strong link to the referral Centre,” the researchers wrote.

The scientists noted that, as emergency regulations related to COVID-19 are expiring in Italy, patients are required to switch back to infusions at hospitals. Based on the responses in this study, such a switch could have negative impacts on patients’ lives and may lead to people missing infusions. As such, the researchers urged policymakers to continue allowing at-home enzyme replacement therapy infusions.

“Authorities should redesign more integrated and patient-centred care pathways, considering the benefits also in terms of social costs,” they wrote.