Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
Orlikowski D, Pellegrini N, Prigent H, Laforêt P, Carlier R, Carlier P, Eymard B, Lofaso F, Annane D.
Neuromuscul Disord. 2011. 21(7):477-82.
This open-label prospective exploratory study investigated the effect of 12 months of recombinant enzyme replacement therapy in 5 adult patients with severe Pompe disease.
Motor and respiratory function, quantitative muscle testing and spirometry were assessed. Concerning motor function assessed by MFM, 3 patients, wheelchair bound at baseline, improved sitting and proximal motor function and 2 patients improved in their ability to stand and transfer.
Alglucosidase alfa may stabilize or even slightly improve muscle strength and respiratory function among patients with severe Pompe disease.
Keywords: Pompe disease; Alglucosidase alfa; Enzyme replacement therapy; rhGAA
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