ERT and adult Pompe disease outcome

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Treatment.

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 12 months at 24 months 36 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%

 

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

Leave a Reply

You must be logged in to post a comment.