Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5 years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6‐minute walking test, MFM scale, sitting vital capacity, MIP and MEP). For longitudinal analyses, the linear mixed effects models were used to assess trends in primary endpoints over time under ERT. A two‐phase model better described the changes in distance traveled in the 6‐minute walk test and MFM. 6MWT showed an initial significant increase (1.4% ± 0.5/year) followed by a progressive decline (−2.3%/year), with a cut‐off point at 2.2 years. A similar pattern was observed in total MFM score (6.6% ± 2.3/year followed by a − 1.1%/year decline after 0.5 years). A single‐phase decline with a slope of −0.9 ± 0.1%/year (P < .001) was observed for FVC, and MEP remained stable over the all duration of follow‐up. This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3 years of treatment.

中文翻译：

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阿糖苷酶 α 酶替代疗法对成人庞贝病患者的长期益处：来自法国庞贝病登记处的前瞻性分析。

尽管临床范围广泛，但成人形式的庞贝病是最常见的一种，占法国确诊患者的 90% 以上。自从酶替代疗法（阿尔法糖苷酶、Myozyme）上市以来，迄今为止所有关于成人的报告都表明步行距离有所改善，呼吸功能趋于稳定，但这些研究中的大多数持续时间不到 5 年. 我们在此报告法国 Pompe Registry 中 158 名接受治疗的患者的结果，这些患者接受了基于常用标准化测试（6 分钟步行测试、MFM 量表、坐位肺活量、MIP 和 MEP）的定期临床评估。对于纵向分析，线性混合效应模型用于评估 ERT 下主要终点随时间变化的趋势。两阶段模型更好地描述了 6 分钟步行测试和 MFM 中行进距离的变化。6MWT 显示最初显着增加（1.4% ± 0.5/年），然后逐渐下降（-2.3%/年），截止点为 2.2 年。在 MFM 总分中观察到类似的模式（6.6% ± 2.3/年，0.5 年后下降 - 1.1%/年）。单相下降，斜率为-0.9±0.1%/年（ FVC 观察到P < .001），并且 MEP 在整个随访期间保持稳定。这项研究提供了进一步的证据，即 ERT 可提高庞贝病成年患者的步行能力并可能稳定其呼吸功能，在治疗的前 3 年对 6MWT 具有天花板效应。