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1. (WO2017040647) METHODS AND COMPOSITIONS FOR THE TREATMENT OF CYTOPPLASMIC GLYCOGEN STORAGE DISORDERS

Pub. No.:    WO/2017/040647    International Application No.:    PCT/US2016/049680
Publication Date: Fri Mar 10 00:59:59 CET 2017 International Filing Date: Thu Sep 01 01:59:59 CEST 2016
IPC: A61P 3/00
A61K 38/47
Applicants: DUKE UNIVERSITY
Inventors: KISHNANI, Priya
SUN, Baodong
KOEBERL, Dwight, D.
Title: METHODS AND COMPOSITIONS FOR THE TREATMENT OF CYTOPPLASMIC GLYCOGEN STORAGE DISORDERS
Abstract:
The present disclosure is directed to methods of treating a cytoplasmic glycogen storage disorder, including glycogen storage disease I, glycogen storage disease III, glycogen storage disease IV, and/or conditions associated with a PRKAG2 mutation, by administering a lysosomal enzyme such as acid alpha-glucosidase. Conditions associated with a PRKAG2 mutation may include hypotonia, cardiomyopathy, myopathy, cytoplasmic glycogen accumulation, ventricular hypertrophy, severe infantile hypertrophic cardiomyopathy, heart rhythm disturbances, increased left ventricular wall thickness, ventricular pre-excitation, or a combination thereof. Methods of treating a cytoplasmic glycogen storage disorder by administering a lysosomal enzyme and a second therapeutic agent are also described. Other embodiments are directed to methods of treating a cytoplasmic glycogen storage disorder by administering a therapeutic agent as an adjunctive therapy to lysosomal enzyme replacement therapy.