Burton Barbara K, Stepien Karolina M, Campeau Philippe M, Sutton Jaim, Hunt Abigail, Reisewitz Pascal, Hinds David
Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Northern Care Alliance NHS Foundation Trust, Salford, United Kingdom.
Genet Med Open. 2025 Mar 29;3:103428. doi: 10.1016/j.gimo.2025.103428. eCollection 2025.
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.
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 ( < .10), adjusting for confounders.
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.
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.
利用横断面数据评估酶替代疗法（ERT；阿加糖酶α）治疗IVA型黏多糖贮积症（MPS IVA）时对耐力的实际疗效。
描述了来自莫氏A登记研究和莫氏A临床评估项目中接受ERT治疗和未接受治疗参与者的6分钟步行试验（6MWT）距离，涉及感兴趣的年龄组（5至<7岁、9至<11岁、14至<16岁和20至<30岁）。进行线性和分位数单变量回归以探索与6MWT相关的变量（ERT、性别、年龄、身高、体重、地区和种族）。使用单变量分析中确定的协变量（<.10）进行多变量回归分析，并对混杂因素进行调整。
共纳入471名参与者；各年龄组内的基线特征相似。在每个年龄组中，接受ERT治疗的参与者的6MWT距离中位数在数值上高于未接受治疗的参与者。经多因素调整的分位数回归表明，ERT治疗使6MWT有持续改善的趋势。在多变量分位数分析中，身高也与较长的6MWT相关，但5至<7岁的参与者除外。
本分析评估了ERT暴露与耐力之间的关联，以确认阿加糖酶α在MPS IVA参与者中的实际长期疗效。
