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 36.2â€‰Â±â€‰10.5Â years but ERT treatment was only started afterÂ 14.5â€‰Â±â€‰7.2Â years (mean delay). This study demonstrates a variable course of neuromuscular deficits during the 36Â 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 patientsÂ were able to walk at baseline a mean distance of 312â€‰Â±â€‰165.5Â m||improving to 344â€‰Â±â€‰165.8Â m(pâ€‰=â€‰0.006)||remaining at 356.4â€‰Â±â€‰155.9Â m(pâ€‰=â€‰0.033)||declining to 325.6â€‰Â±â€‰174.8Â m(pâ€‰=â€‰0.49, n.s.)|
|The mean forced vital capacities (FVC) in 28 patients was 80.27â€‰Â±â€‰14.08% of predicted normal at baseline||79.19â€‰Â±â€‰13.09%||78.62â€‰Â±â€‰16.55%,||77.19â€‰Â±â€‰18.05%|
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