Akademik Veri Yönetim Sistemi
Orphanet Journal of Rare Diseases, cilt.20, sa.1, 2025 (SCI-Expanded)
Background: Fabry 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. Method: The 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. Results: Overall, 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. Conclusions: The 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.