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

Sun, Baodong

Fredrickson, Keri

Austin, Stephanie

Tolun, Adviye A

Thurberg, Beth L

Kraus, William E

Bali, Deeksha

Chen, Yuan-Tsong

Kishnani, Priya S

United States

2017-07-24T14:40:47Z

2017-07-24T14:40:47Z

2013-02

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.

https://www.ncbi.nlm.nih.gov/pubmed/23318145

S1096-7192(12)00715-9

1096-7206

https://hdl.handle.net/10161/15087

eng

Elsevier BV

Mol Genet Metab

10.1016/j.ymgme.2012.12.002

Adult

Enzyme Replacement Therapy

Female

Glycogen

Glycogen Storage Disease Type III

Humans

Male

Middle Aged

Muscle, Skeletal

Treatment Outcome

alpha-Glucosidases

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

Journal article

Sun, Baodong|0000-0002-2191-0025

Kraus, William E|0000-0003-1930-9684

Bali, Deeksha|0000-0003-2550-8073

Kishnani, Priya S|0000-0001-8251-909X

https://www.ncbi.nlm.nih.gov/pubmed/23318145

145

147

2

Clinical Science Departments

Duke

Duke Cancer Institute

Duke Clinical Research Institute

Duke Molecular Physiology Institute

Institutes and Centers

Medicine

Medicine, Cardiology

Nursing

Pediatrics

Pediatrics, Medical Genetics

School of Medicine

School of Nursing

Published

108