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Muscle Nerve ; 27(6): 743-51, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12766987

ABSTRACT

Pompe's disease (glycogen storage disease type II) is an autosomal recessive myopathy caused by lysosomal alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is currently under development for this disease. We evaluated the morphological changes in muscle tissue of four children with infantile Pompe's disease who received recombinant human alpha-glucosidase from rabbit milk for 72 weeks. The patients were 2.5-8 months of age at entry. Prior to treatment, all patients showed lysosomal glycogen storage in skeletal and smooth muscle cells, vascular endothelium, Schwann cells, and perineurium. The first response to treatment was noticed in vascular endothelium and in peripheral nerves after 12 weeks of treatment at an enzyme dose of 15-20 mg/kg. Increasing the dose to 40 mg/kg led, after 72 weeks of treatment, to a reduction of glycogen storage and substantial improvement of muscle architecture in the least affected patient. Not all patients responded equally well, possibly due to differences in degree of glycogen storage and concomitant muscle pathology at the start of treatment. We conclude that intravenous administration of recombinant human alpha-glucosidase from rabbit milk can improve muscle morphology in classic infantile Pompe's disease when treatment is started before irreversible damage has occurred.


Subject(s)
Glycogen Storage Disease Type II/drug therapy , Glycogen Storage Disease Type II/pathology , Muscle, Skeletal/drug effects , Muscle, Skeletal/pathology , alpha-Glucosidases/pharmacology , alpha-Glucosidases/therapeutic use , Animals , Dose-Response Relationship, Drug , Endothelium, Vascular/metabolism , Endothelium, Vascular/pathology , Endothelium, Vascular/ultrastructure , Female , Glycogen/metabolism , Glycogen Storage Disease Type II/metabolism , Humans , Infant , Lysosomes/metabolism , Lysosomes/pathology , Lysosomes/ultrastructure , Male , Microscopy, Electron , Muscle Fibers, Skeletal/metabolism , Muscle Fibers, Skeletal/pathology , Muscle Fibers, Skeletal/ultrastructure , Muscle, Skeletal/enzymology , Myocytes, Smooth Muscle/metabolism , Myocytes, Smooth Muscle/pathology , Myocytes, Smooth Muscle/ultrastructure , Peripheral Nerves/metabolism , Peripheral Nerves/pathology , Rabbits , Recombinant Fusion Proteins/pharmacology , Recombinant Fusion Proteins/therapeutic use , Schwann Cells/metabolism , Schwann Cells/pathology , Treatment Outcome , alpha-Glucosidases/deficiency
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