OBJECTIVES: To assess the HRQoL of MPS patients on ERT in clinical trials and real-world observational studies.

METHODS: A systematic literature search (SLR) was conducted using EMBASE and MEDLINE to assess HRQoL of MPS patients receiving ERT. Eligible studies included clinical trials or observational studies.

RESULTS: The SLR identified 870 studies of which five studies evaluated the impact of ERT on HRQoL. Three studies reported HRQoL in patients with MPS IV and one each assessed HRQoL in patients with MPS I, II, and VI. The number of patients in each study ranged from 7 to 68. Instruments used to report HRQoL included EQ-5D (n=4), SF-36 (n= 2), TACQOL/TAPQOL (n=1), and PedsQL (n=2). HRQoL of patients were assessed by caregivers in two studies and by self-assessment in three studies. Harmatz et al 2016 reported the SF-36 physical component scores (PCS) remained unchanged after 48 weeks of ERT in seven MPS IV patients and decreased in one patient. Wyatt et al 2012 reported a significant change in HRQoL up to 8 years of ERT treatment in 39 patients with MPS II, but no significant change was observed in MPS I patients. Pintos-Morell et al 2018 reported 3 of 6 MPS IV patients treated with ERT had improved EQ-5D scores after 8 months. In Cleary et al 2021, 55 MPS IV patients treated with ERT reported no significant change in EQ-5D scores after three years. Brands et al 2013 reported 11 MPS VI patients had a decreased in TACQOL/TAPQOL anxiety and negative emotions after 2.5 years on ERT.

CONCLUSIONS: Moderate improvements in HRQoL were observed in patients receiving ERT. There is a dearth of evidence of HRQoL among MPS patients particularly those receiving non-ERT based treatments.