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Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III

2012; Elsevier BV; Volume: 108; Issue: 2 Linguagem: Inglês

10.1016/j.ymgme.2012.12.002

1096-7206

Baodong Sun, Keri Fredrickson, Stephanie Austin, Adviye Ayper Tolun, Beth L. Thurberg, William E. Kraus, Deeksha Bali, Yuan-Tsong Chen, Priya S. Kishnani,

Carbohydrate Chemistry and Synthesis

We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was established by isolating primary myoblasts from skeletal muscle biopsies of patients with GSD IIIa. We demonstrated that rhGAA significantly reduced glycogen levels in the two GSD IIIa patients' muscle cells (by 17% and 48%, respectively) suggesting that rhGAA could be a novel therapy for GSD III. This conclusion needs to be confirmed in other in vivo models.