OBJECTIVES: Enzyme replacement therapies (ERT) offer valuable treatment options for patients with Fabry disease (FD). However, ERTs must be prepared and administered as intravenous infusions every two weeks in a hospital setting. We wanted to better understand the resource requirements associated with ERT infusions, possible burden and impacts on health-related quality of life (HRQoL) and work productivity for patients and their caregivers.

METHODS: Patients with FD who are receiving ERT and their caregivers were identified and recruited from specialist centres from Brazil, Japan, Taiwan, and Turkey. A study protocol was implemented (Clinicaltrials.gov reference NCT04281537) and local ethics approval was obtained for each participating site. Time and motion methodology was applied to quantify health care professional (HCP) resources associated with ERT administration. Questionnaires were fielded directly to patients and their caregivers assessing various outcomes including HRQoL, wellbeing, levels of fatigue, work productivity and the strain of providing care.

RESULTS: Total of 76 patients were recruited (Brazil n=23, Japan n=4, Taiwan n=30, Turkey n=19). The study successfully collected data per protocol on total HCP time associated with ERT preparation and administration, as well as impact on patients’ and caregivers’ time and costs (out-of-pocket expenses) associated with the infusion attendance. Subsequent post infusion impact on patients’ HRQoL, wellbeing, levels of fatigue and work productivity was also determined.

CONCLUSIONS: This study addresses evidence gaps surrounding the real-world resource costs and experience of FD patients and their caregivers from different countries during treatment of ERTs in a hospital setting. The observational/real-world approach successfully captured the impact for both patients and their caregivers before, during and after ERT infusion episodes. Resulting data before, during and after ERT infusion episodes can be used to improve ERT workflow, refine cost effectiveness modelling and enable more accurate comparison to alternative treatments such as oral chaperone therapies for FD.