Treatment of rett syndrome

Abstract

The present invention relates to agents and methods for treating autism spectrum disorders, such as Rett Syndrome. This invention addresses the need mentioned above by providing agents and methods for treating or ameliorating symptoms of neurologic diseases, such as autism spectrum disorders and Rett Syndrome. In one aspect, the invention provides a method for treating a neurologic disease associated with one or more mutations in the MECP2 gene.

What is claimed is: 
     
         1 . A method for treating Rett Syndrome, comprising administering to a human subject in need thereof an effective amount of a therapeutic agent that is {[2-bromo-4-(2-carbamoyl-2-methanesulfonylaminoethyl)phenyl]difluoromethyl}-phosphonic acid (CPT157633) or a derivative or analog thereof. 
     
     
         2 . The method of  claim 1 , wherein the therapeutic agent is administered to the subject after diagnosis of Rett Syndrome. 
     
     
         3 . The method of any one of  claims 1  to  2 , further comprising testing the subject for a mutation in a gene encoding methyl CpG-binding protein 2 (MECP2). 
     
     
         4 . The method of  claim 3 , wherein the testing comprises nucleic acid detection and the nucleic acid detection is an assay selected from the group consisting of polymerase chain reaction (PCR), reverse transcription polymerase chain reaction (RT-PCR), quantitative PCR, nucleic acid sequencing, nucleic acid microarray analysis, and fluorescence in situ hybridization. 
     
     
         5 . The method of  claim 3  wherein the testing comprises nucleic acid sequencing of one or more of the coding regions and exon/intron boundaries of the MECP2 gene. 
     
     
         6 . A system comprising a first pharmaceutical composition comprising an effective amount of a first therapeutic agent that is a small molecule inhibitor of PTP1B, and a kit for diagnosing Rett Syndrome. 
     
     
         7 . The system of  claim 6 , wherein the small molecule inhibitor of PTP1B is CPT157633. 
     
     
         8 . The system of  claim 6 , wherein the kit comprises a reagent for detecting a mutation in a gene encoding methyl CpG-binding protein 2 (MECP2). 
     
     
         9 . The system of  claim 8 , wherein the reagent comprises PCR primers for PCR-based sequencing of one or more of the coding regions and exon/intron boundaries of the MECP2 gene. 
     
     
         10 . A composition comprising a small molecule inhibitor of PTP1B for use in treatment of a neurologic disorder characterized by mutations in the MECP2 gene. 
     
     
         11 . The composition of  claim 11  wherein the disorder is an autism spectrum disorder. 
     
     
         12 . The composition of  claim 11  wherein the disorder is Rett Syndrome. 
     
     
         13 . The composition of any one of  claims 11  and  12  wherein the small molecule inhibitor of PTP1B is CPT157633.