Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
Mol Genet Metab. 2013 Feb;108(2):145-7. doi: 10.1016/j.ymgme.2012.12.002. Epub 2012 Dec 27.
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.
我们研究了使用重组人酸性-α 葡糖苷酶（rhGAA，阿糖苷酶 α）作为糖原贮积病 III 型（GSD III）治疗方法的可行性，rhGAA 是一种已获 FDA 批准的庞贝病治疗药物。我们通过从 GSD IIIa 患者的骨骼肌活检中分离原代成肌细胞，建立了体外疾病模型。我们证明 rhGAA 可显著降低两位 GSD IIIa 患者肌肉细胞中的糖原水平（分别降低 17%和 48%），提示 rhGAA 可能成为 GSD III 的一种新型治疗方法。这一结论需要在其他体内模型中得到证实。
