A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta.

backgroundFabry disease (FD) is a rare inherited X-linked lysosomal disorder caused by the deficiency or dysfunction of the enzyme α-galactosidase. This leads to a detrimental accumulation of globotriaosylceramide (Gb3) within multiple cell types. Enzyme replacement therapies (ERTs), including agalsidase alfa and agalsidase beta, can diminish Gb3 levels. Published real-world data on the time, cost and burden associated with the administration of ERTs are limited. These evidence gaps were addressed by generating real-world data quantifying the burden of agalsidase alfa and beta infusions for FD treatment.

methodThe study (ClinicalTrials.gov number: NCT04281537) comprised a prospective time-and-motion and a cross-sectional evaluation of self-reported burden and outcomes associated with ERT administration (including work productivity and out-of-pocket costs) from multiple perspectives (healthcare professionals [HCPs], patients, and caregivers). To assess patient/caregiver experience and burden of ERT, the primary objective was to quantify the total time spent by HCPs in the preparation and administration of a single dose of ERT.

resultsOverall, 76 patients and 6 caregivers were included. Of the 76 patients, (Brazil [n = 23], Japan [n = 4], Taiwan [n = 30] and Turkey [n = 19]), 41% were female and the mean (standard deviation [SD]) age at diagnosis was 41.1 (17.1) years. Overall, most patients (70%, n = 53) had moderate FD and were treated with agalsidase beta (65%, n = 48); this was the predominant ERT administered in Brazil (100%, n = 23) and Turkey (74%, n = 14); most patients in Japan (75%, n = 3) and Taiwan (67%, n = 20) received agalsidase alfa. The mean (SD) HCP time spent on all ERT activities was 151.9 (62.5) minutes (2.5 [1.0] hours); the mean (SD) time spent on pre- and post-infusion activities was 20.9 (13.4) (0.3 [0.2] hours) and 12.8 (9.6) minutes (0.2 [0.2] hours), respectively. The mean (SD) time spent by patients for all ERT activities was 368.5 (191.5) minutes (6.1 [3.2] hours); 21% (n = 16/76) of patients and 50% (n = 3/6) of carers took time off work for an ERT episode.

conclusionsThe multi-region findings provide a more complete picture of the burden associated with ERT administration for FD treatment on patients, caregivers, and HCPs. Results may support further cost-effectiveness modelling for novel treatment approaches and inform treatment decisions and patient management.