Ontology highlight
ABSTRACT:
SUBMITTER: Xu S
PROVIDER: S-EPMC6483515 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Xu Su S Lun Yi Y Frascella Michelle M Garcia Anadina A Soska Rebecca R Nair Anju A Ponery Abdul S AS Schilling Adriane A Feng Jessie J Tuske Steven S Valle Maria Cecilia Della MCD Martina José A JA Ralston Evelyn E Gotschall Russell R Valenzano Kenneth J KJ Puertollano Rosa R Do Hung V HV Raben Nina N Khanna Richie R
JCI insight 20190307 5
Pompe disease is a rare inherited disorder of lysosomal glycogen metabolism due to acid α-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) using alglucosidase alfa, a recombinant human GAA (rhGAA), is the only approved treatment for Pompe disease. Although alglucosidase alfa has provided clinical benefits, its poor targeting to key disease-relevant skeletal muscles results in suboptimal efficacy. We are developing an rhGAA, ATB200 (Amicus proprietary rhGAA), with high levels of man ...[more]