Regnery et al (2012) performed an open-label observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult patients with GSD2. The patients first presented with the disease at a mean age of 36.2 ± 10.5 years but ERT treatment was only started after 14.5 ± 7.2 years (mean delay). This study demonstrates a variable course of neuromuscular deficits during the 36 months of this observational study (36 months of ERT treatment).
| at baseline | after 12Â months | at 24Â months | 36Â months of ERT |
| At the 6-minute walk test (6MWT) 21 patients were able to walk at baseline a mean distance of 312 ± 165.5 m | improving to 344 ± 165.8 m(p = 0.006) | remaining at 356.4 ± 155.9 m(p = 0.033) | declining to 325.6 ± 174.8 m(p = 0.49, n.s.) |
| The mean forced vital capacities (FVC) in 28 patients was 80.27 ± 14.08% of predicted normal at baseline | 79.19 ± 13.09% | 78.62 ± 16.55%, | 77.19 ± 18.05% |
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36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. Regnery et al. J Inherit Metab Dis. 2012 Jan 31. [Epub ahead of print] PMID: 22290025
posted by Yannis Trakadis MD, MSc
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