Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
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| Abstract |
Pompe disease is an autosomal recessive muscle-wasting disorder caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase. Due to virtual absence of acid alpha-glucosidase, patients with classical infantile Pompe disease develop progressive cardiomyopathy, skeletal muscle weakness and respiratory insufficiency leading to death in early infancy. We report on the results of a phase II clinical trial including two patients with classical infantile Pompe disease receiving enzyme replacement therapy over a period of 48 weeks by weekly infusions. Recombinant acid alpha-glucosidase was derived from the milk of transgenic rabbits. Safety was evaluated by recording adverse events while clinical efficacy was evaluated by ventilator-free survival, left ventricular mass index, motor development as well as histologic and biochemical analysis of muscle biopsies. This therapy was in general well-tolerated. There was an overall improvement in left ventricular mass, cardiac function, skeletal muscle function and histological appearance of skeletal muscle.
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| Authors | L Klinge, V Straub, U Neudorf, J Schaper, T Bosbach, K Görlinger, M Wallot, S Richards, T Voit |
| Journal | Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 15 Issue 1 Pg. 24-31 (Jan 2005) ISSN: 0960-8966 [Print] England |
| PMID | 15639117 (Publication Type: Clinical Trial, Clinical Trial, Phase II, Comparative Study, Journal Article) |
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