Benjamin MUGRAGE,Gary LEE,Xiaoxiang ZHU,Robert BOYD,Kamlesh SHETH
申请号：
US15838986
公开号：
US20180221357A1
申请日:
2017.12.12
申请国别(地区):
US
年份:
2018
代理人:
摘要：
The present invention provides a method for increasing the activity of a mutant or wild-type α-glucosidase enzyme in vitro and in vivo by contacting the enzyme with a specific pharmacological chaperone which is a derivative of 1-deoxynojirimycin. The invention also provides a method for the treatment of Pompe disease by administration of chaperone small molecule compound which is a derivative of 1-deoxynojirimycin. The 1-deoxynojirimycin derivative is substituted at the N or C1 position. Combination therapy with replacement α-glucosidase gene or enzyme is also provided.
