METHODS AND COMPOSITIONS FOR INTRATHECALLY ADMINISTERED TREATMENT OF MUCUPOLYSACCHARIDOSIS TYPE IIIA

摘要

The present invention provides, among other things, effective treatment for Sanfilippo Syndrome Type A (MPS IDA) based on intrathecal delivery of recombinant heparin N-Sulfatase (HNS) enzyme. In some embodiments, the present invention includes methods of treating Sanfilippo Syndrome Type A (MPS IIIA) Syndrome by intrathecal administration of a recombinant HNS enzyme at a therapeutically effective dose and an administration interval for a period sufficient to decrease glycosaminoglycan (GAG) heparan sulfate level in the cerebrospinal fluid (CSF) and/or urine relative to a control.