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

作者：Sun Baodong^*; Fredrickson Keri; Austin Stephanie; Tolun Adviye A; Thurberg Beth L; Kraus William E; Bali Deeksha; Chen Yuan Tsong; Kishnani Priya S

来源：Molecular Genetics and Metabolism, 2013, 108(2): 145-147.

DOI：10.1016/j.ymgme.2012.12.002

• Alglucosidase alfa
• Glycogen storage disease type III
• Glycogen degradation
• Primary skeletal muscle culture
• Novel therapy

We investigated the feasibility of using recombinant human acid-alpha 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.

• 出版日期2013-2