Table 1.
Overview and outcomes evaluated for studies reporting on health economics of IOPD and LOPD
| Publication (quality rating) | Study objective | Methods | Economic data | Outcome(s) evaluated |
|---|---|---|---|---|
| Studies reporting on economic burden of IOPD | ||||
| Castro-Jaramillo (2012) [29] (3/9) | Estimate the cost-effectiveness of ERT vs no ERT (supportive therapy) in two different settings: England and Colombia | Deterministic Markov (annual cycles) model using published literature from a health system’s perspective over a 20-year time horizon (n = NR). Discount rate of 5% on costs and effects |
ERT treatment, administration, complications Supportive care EQ-5D utilities |
Cost-effectiveness based on cost per QALY gained |
| Kanters et al. (2014) [30] (5/9) | Estimate the cost-effectiveness of ERT vs no ERT (supportive therapy) in a Dutch population | Patient-level simulation model (6-month cycles) using patient-level data from a societal perspective over a lifetime time horizon (n = 12). Discount rate of 4% on costs and 1.5% on effects |
ERT treatment, administration Other HCRU, informal care EQ-5D utilities |
Cost-effectiveness based on cost per QALY gained |
| Studies reporting on economic burden of LOPD | ||||
| Kanters et al. (2011) [31] (4/9) | Estimate burden of illness of patient not on ERT including societal costs, use of home care and informal care, productivity losses, and losses in HRQoL in a Dutch population | Longitudinal study (January 2005 to October 2009) of 92 patients seen at Erasmus Medical Center. Patients included those not on ERT. Data collected via questionnaire every 6 months and monetized using Dutch unit costs (n = 80) |
Hospitalization, ambulatory visits Non-ERT meds Labs, devices Informal care, productivity loss EQ-5D utilities |
Cost of supportive care Health utilities |
| Kanters et al. (2015) [32] (3/9) | Assess properties of two measures to estimate health state preferences, the EQ-5D and the SF-6D in a Dutch population | Longitudinal study (January 2005 to August 2011) of 110 patients seen at Erasmus Medical Center. All Dutch patients included data collection of EQ-5D and SF-36 (n = 110) |
EQ-5D utilities Mapped SF-6D utilities |
Health utilities |
| Winquist et al. (2014) [33] (2/9) | Assess the validity to apply a standardized policy framework to fairly evaluate rare disease drugs in Ontario, Canada | Retrospective observational cohort study by the DRDWG to apply to policy framework to 7 rare diseases (n = NR) | ERT treatment |
Cost per patient Budget impact |
| Kanters et al. (2017) [36] (5/9) | Estimate the cost-effectiveness of ERT vs no ERT (supportive therapy) in a Dutch population | Patient-level simulation model using patient-level data from a societal perspective over a lifetime time horizon (n = 283). Discount rate of 4% on costs and 1.5% on effects |
ERT treatment, administration Hospitalization, ambulatory visits Home care, diagnostics, Medical aids Informal care, productivity loss EQ-5D utilities |
Cost-effectiveness based on cost per QALY gained |
| Studies reporting on economic burden of IOPD plus LOPD | ||||
| Guo et al. (2012) [34] (2/9) |
Describe the associated drug utilization and spending trends in the US Medicaid Program |
Retrospective analysis using the National Medicaid pharmacy claims database from 2nd quarter of 2006 through 2nd quarter of 2011 (n = NR) | ERT treatment per prescription |
Cost per prescription Budget impact |
| Wyatt et al. (2012) [35] (2/9) | Estimate burden of illness of patient including societal costs, use of home care and informal care, productivity losses, and losses in HRQoL in England | Cohort study including prospective and retrospective clinical- and patient-reported data (LOPD, n = 65; IOPD, n = 12) |
ERT treatment, administration Other HCRU, informal care EQ-5D utilities |
Total cost of care Health utilities |
DRDWG Drugs for Rare Diseases Working Group, EQ-5D EuroQoL-5D, ERT enzyme-replacement therapy, HCRU healthcare resource utilization, HRQoL health-related quality of life, IOPD infantile-onset Pompe disease, LOPD late-onset Pompe disease, NR not reported, QALY quality-adjusted life year, SF-6D Short Form-6D