VP.29 Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease; a prospective study

Abstract

Pompe disease is a progressive lysosomal storage disease treated with life-long weekly or biweekly enzyme replacement therapy (ERT). Home-based ERT diminishes the burden of treatment in Pompe patients and has been provided in the Netherlands since 2008. The COVID-19 pandemic has prompted the need for home-based ERT. We conducted a prospective survey to map infusion associated reactions (IARs) and validate safety of home-based ERT during one year. Patients with Pompe disease currently receiving alglucosidase alfa infusions at home were included. Prospective data on the occurrence, severity and management of IARs related to the home-infusion of alglucosidase alfa were collected by means of questionnaires. Patients received this questionnaire every three months during one year. Data on 120 patients were collected; 18 classic infantile, 18 childhood onset, and 84 adult onset Pompe patients. In total 116 of these patients filled in 423 questionnaires (overall response rate: 88%). Health problems during or within 48 hours from infusion were reported 27 times in 17 patients (5 classic infantile, 1 childhood onset, 11 adult onset). None of the infusion associated reactions that occurred warranted immediate care in hospital. Our data demonstrate that home-based ERT in Pompe disease is safe as few IARs occurred and those that occurred could be managed with no or minor interventions. Insights gained from this study can be used as a base for implementation of home-infusions in other countries and for further optimization of the protocol for home-based therapy with ERT in Pompe disease.