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. 2025 Mar 29:3:103428.
doi: 10.1016/j.gimo.2025.103428. eCollection 2025.

Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time

Barbara K Burton  1 , Karolina M Stepien  2 , Philippe M Campeau  3 , Jaim Sutton  4 , Abigail Hunt  5 , Pascal Reisewitz  5 , David Hinds  5
Affiliations

Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time

Barbara K Burton et al. Genet Med Open. .

Abstract

Purpose: To assess the real-world effectiveness of enzyme replacement therapy (ERT; elosulfase alfa) on endurance in the treatment of mucopolysaccharidosis type IVA (MPS IVA) using cross-sectional data.

Methods: The 6-minute walk test (6MWT) distances of ERT-treated and untreated participants from the Morquio A Registry Study and Morquio A Clinical Assessment Program were described for age groups of interest (5 to <7 years, 9 to <11 years, 14 to <16 years, and 20 to <30 years). Linear and quantile univariate regression were performed to explore variables associated with 6MWT (ERT, sex, age, standing height, body weight, region, and race). Multivariate regression analyses were performed using covariates identified in univariate analyses (P < .10), adjusting for confounders.

Results: A total of 471 participants were included; baseline characteristics were similar within age groups. Median 6MWT distances were numerically greater in ERT-treated versus untreated participants within each age group. Quantile regression adjusting for multiple factors indicated a consistent trend of improved 6MWT with ERT treatment. Standing height was also associated with longer 6MWT in the multivariate quantile analysis, except in participants aged 5 to <7 years.

Conclusion: This analysis assessed associations between ERT exposure and endurance to confirm the real-world, long-term effectiveness of elosulfase alfa in participants with MPS IVA.

Keywords: 6-minute walk test; Cross-sectional; Mucopolysaccharidosis IVA; Multivariate analysis; Registry.

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Conflict of interest statement

Barbara K. Burton has received consulting fees from Agios, Applied Therapeutics, Aro, BioMarin Pharmaceutical Inc, Chiesi, Freeline, JCR Pharma, Moderna, Orchard, Passage Bio, PTC Therapeutics, Takeda, and Ultragenyx; participated as a clinical trial investigator for BioMarin Pharmaceutical Inc, Denali, Homology Medicines, JCR Pharma, Sangamo, and Ultragenyx; and received speaker’s fees from BioMarin Pharmaceutical Inc, Horizon, and Takeda. Karolina M. Stepien was the Principal Investigator in the Morquio A Registry Study. Philippe M. Campeau has received consulting fees from Ipsen and Sanofi. Jaim Sutton was contracted by BioMarin Pharmaceutical Inc to work on this study. Abigail Hunt, Pascal Reisewitz, and David Hinds are employees/shareholders of BioMarin Pharmaceutical Inc.

Figures

Figure 1
Figure 1
Analytic approach. A. Simplified illustration of the analytic approach showing the process of cohort identification from the MARS and MorCAP studies. B. Simplified illustration of the method by which comparison of ERT-treated and untreated participants was performed. a6MWT measurement closest to the median for the age group was used. bGroups were mutually exclusive: individual subjects identified in both data sets were included in the untreated group only. 6MWT, 6-minute walk test; ERT, enzyme replacement therapy; MARS, Morquio A Registry Study; MorCAP, Morquio A Clinical Assessment Program.
Figure 2
Figure 2
Median (IQR) 6MWT distances and the relative difference between the median of the ERT-treated and untreated groups within age subgroups. 6MWT, 6-minute walk test; ERT, enzyme replacement therapy; IQR, interquartile range.
See this image and copyright information in PMC

References

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