Methods and materials for ameliorating creatine deficiency disorders

Abstract

The invention disclosed herein provides methods and materials useful in gene therapy regimens designed to treat creatine deficiency disorders. Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecule. One of these, guanidinoacetate N-methyltransferase (GAMT) deficiency, has clinical characteristics that include features of autism, self-mutilation, intellectual disability and seizures with approximately 40% having a disorder of movement; failure to thrive can also be a component. As disclosed herein, a gene therapy approach can result in long-term normalization of GAA with increased creatine in guanidinoacetate N-methyltransferase deficiency and at the same time resolves the behavioral phenotype in a murine model of the disorder. These findings have important implications for the development of a new therapy for this abnormality of creatine metabolism.

Dependencies are inferred from the claim text.