Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

The objective of this study was to determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response.

In this prospective, multicenter cohort study, the authors studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease (NCT00158600) or its extension (NCT00455195) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed at 3- to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixed-effects models for repeated measurements.

The majority of patients with Pompe disease benefit from long-term ERT, but many patients experience some secondary decline after ≈3 to 5 years. Individual variation, however, is considerable. This study provides Class IV evidence that for the majority of adults with Pompe disease, long-term ERT positively affects, or slows deterioration in, muscle strength, walking ability, and/or pulmonary function.


Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME. Neurology. 2019 Oct 16. pii: 10.1212/WNL.0000000000008441. doi: 10.1212/WNL.0000000000008441. [Epub ahead of print]