Recombinant human CLN2 protein and methods of its production and use

Abstract

The present invention relates to a method for treating a patient having disorder characterized by a deficient amount of functional CLN2 protein in the affected cells, which comprises administering to the patient an amount of CLN2 protein effective to reduce or eliminate the symptoms caused by the deficiency in CLN2 protein.

1 . A method for treating a patient having disorder characterized by a deficient amount of functional CLN2 protein in the affected cells, which comprises administering to the patient an amount of CLN2 protein effective to reduce or eliminate the symptoms caused by the deficiency in CLN2 protein.  
     
     
         2 . A method of  claim 1  wherein the disorder is characterized by accumulation of one or more storage products in the lysosomes of the affected cells.  
     
     
         3 . A method of  claim 2  wherein the affected cells are neuronal cells.  
     
     
         4 . A method of  claim 2  wherein the storage product is mitochondrial ATP synthase subunit c.  
     
     
         5 . A method of  claim 4  wherein the level of mitochondrial ATP synthase subunit c is reduced by administration of CLN2 protein.  
     
     
         6 . A method of  claim 3  wherein the disorder is LINCL.  
     
     
         7 . A method of  claim 1  wherein the CLN2 protein is an inactive proenzyme.  
     
     
         8 . A method of  claim 7  wherein the CLN2 protein is a recombinant protein.  
     
     
         9 . A method of  claim 1  wherein the CLN2 protein is an active enzyme.  
     
     
         10 . A method of  claim 9  wherein the CLN2 protein is a recombinant protein.  
     
     
         11 . A method of  claim 1  wherein the CLN2 protein is administered by injection.  
     
     
         12 . A method of  claim 1  wherein the CLN2 protein is administered with an uptake inhibitor.  
     
     
         13 . A method of  claim 12  wherein the uptake inhibitor is mannose-6-phosphate.  
     
     
         14 . A method of  claim 11  wherein the effective amount of CLN2 protein is such that the affected cells receive from about 1.0 to about 100 nM of CLN2 protein.  
     
     
         15 . A method of  claim 12  wherein the effective amount of CLN2 protein is such that the affected cells receive from about 1.0 to about 100 nM of CLN2 protein.