Ontology highlight
ABSTRACT:
SUBMITTER: Kishnani P
PROVIDER: S-EPMC5417791 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Kishnani Priya P Tarnopolsky Mark M Roberts Mark M Sivakumar Kumarswamy K Dasouki Majed M Dimachkie Mazen M MM Finanger Erika E Goker-Alpan Ozlem O Guter Karl A KA Mozaffar Tahseen T Pervaiz Muhammad Ali MA Laforet Pascal P Levine Todd T Adera Matthews M Lazauskas Richard R Sitaraman Sheela S Khanna Richie R Benjamin Elfrida E Feng Jessie J Flanagan John J JJ Barth Jay J Barlow Carrolee C Lockhart David J DJ Valenzano Kenneth J KJ Boudes Pol P Johnson Franklin K FK Byrne Barry B
Molecular therapy : the journal of the American Society of Gene Therapy 20170322 5
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of ...[more]