Treatment of glycogen storage disease type II

Abstract

Methods of treating glycogen storage disease type II, by administering acid α-glucosidase, are described, as are compositions for use in treatment of glycogen storage disease type II.

1 . A method of treating glycogen storage disease type II in a human individual having glycogen storage disease type II, comprising administering to the individual human acid α-glucosidase produced in chinese hamster ovary cell cultures, in a therapeutically effective amount that is sufficient to increase end-diastolic and/or end-systolic ventricular volume over baseline measurement of said volume in the individual.  
     
     
         2 . The method of  claim 1 , wherein the end-diastolic and/or end-systolic ventricular volume is increased at least about 2 to 3 fold over baseline measurement of said volume in the individual.  
     
     
         3 . The method of  claim 2 , wherein the ventricular volume is measured by 2-D echocardiography.  
     
     
         4 . The method of  claim 2 , wherein the ventricular volume is measured by M-mode echocardiography.  
     
     
         5 . The method of  claim 2 , wherein the ventricular volume is measured by Doppler echocardiography.  
     
     
         6 . A method of treating glycogen storage disease type 11 in a human individual having glycogen storage disease type 11, comprising administering to the individual human acid CL- glucosidase produced in chinese hamster ovary cell cultures, in a therapeutically effective amount that is sufficient to decrease left ventricular mass from baseline measurement of said mass in the individual.  
     
     
         7 . The method of  claim 6 , wherein the left ventricular mass is decreased to about 60-70% of baseline measurement of said mass in the individual.  
     
     
         8 . The method of  claim 7 , wherein the ventricular mass is measured by 2-D echocardiography.  
     
     
         9 . The method of  claim 7 , wherein the ventricular mass is measured by M-mode echocardiography.  
     
     
         10 . The method of  claim 7 , wherein the ventricular mass is measured by Doppler echo cardiography.  
     
     
         11 . A method of treating glycogen storage disease type II in a human individual having glycogen storage disease type II, comprising administering to the individual human acid α-glucosidase produced in chinese hamster ovary cell cultures, in a therapeutically effective amount that is sufficient to increase pulmonary function over baseline capacity in the individual.  
     
     
         12 . The method of  claim 11 , wherein the increase in pulmonary function is indicated by an increase in crying vital capacity over baseline measurement of crying vital capacity in the individual.  
     
     
         13 . The method of  claim 12 , wherein the crying vital capacity is increased at least about 28% over baseline measurement in the individual.  
     
     
         14 . The method of  claim 11 , wherein the increase in pulmonary function is indicated by normalization of oxygen saturation during crying over baseline measurement of oxygen saturation during crying in the individual.  
     
     
         15 . The method of  claim 11 , wherein the increase in pulmonary function is indicated by increased respiratory muscle strength over baseline measurement of respiratory muscle strength in the individual.  
     
     
         16 . A method of treating glycogen storage disease type II in a human individual having glycogen storage disease type II, comprising administering to the individual human acid α-glucosidase produced in chinese hamster ovary cell cultures, in a therapeutically effective amount sufficient to improve motor development over baseline measurement of motor development in the individual.  
     
     
         17 . The method of  claim 16 , wherein the improvement in motor development is indicated by an increase over baseline measurement in Alberta Infant Motor Scale (AIMS) score in the individual.  
     
     
         18 . A method of treating glycogen storage disease type II in a human individual having glycogen storage disease type II, comprising administering to the individual human acid α-glucosidase produced in chinese hamster ovary cell cultures, in a therapeutically effective amount sufficient to improve neurodevelopment over baseline measurement of neurodevelopment in the individual.  
     
     
         19 . The method of  claim 18 , wherein improvement in neurodevelopment is indicated by an increase over baseline measurement in personal-social, language, or fine motor developmental domains as measured by Denver Developmental evaluation in the individual.