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Progress in enzyme replacement therapy in glycogen storage disease type II

Department of Neurosciences, University of Padova, Padova, Italy, corrado.angelini{at}unipd.it

Claudio Semplicini

Department of Neurosciences, University of Padova, Padova, Italy

Paola Tonin

Department of Neurological Sciences, University of Verona

Massimiliano Filosto

Department of Neurology, University of Brescia, Brescia, Italy

Elena Pegoraro

Department of Neurosciences, University of Padova, Padova, Italy

Gianni Sorarù

Department of Neurosciences, University of Padova, Padova, Italy

Marina Fanin

Department of Neurosciences, University of Padova, Padova, Italy

Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile and an adult-onset form. Cases with juvenile or adult onset GSDII mimic limb-girdle muscular dystrophy or polymyositis and are often characterized by respiratory involvement. GSDII patients are diagnosed by biochemical assay and by molecular characterization of the GAA gene. Ascertaining a natural history of patients with heterogeneous late-onset GSDII is useful for evaluating their progressive functional disability. A significant decline is observed over the years in skeletal and respiratory muscle function. Enzyme replacement therapy (ERT) has provided encouraging results in the infantile form. It is not yet known if ERT is effective in late-onset GSDII. We examined a series of 11 patients before and after ERT evaluating muscle strength by MRC, timed and graded functional tests, 6-minute walk test (6MWT), respiratory function by spirometric parameters and quality of life. We observed a partial improvement during a prolonged follow-up from 3 to 18 months. The use of different clinical parameters in the proposed protocol seems crucial to determine the efficacy of ERT, since not all late-onset patients respond similarly to ERT.

Key Words: glycogen storage disease type II • trial • protocol

Therapeutic Advances in Neurological Disorders, Vol. 2, No. 3, 143-153 (2009)
DOI: 10.1177/1756285609103324


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