Methods and compositions for treating GM1 gangliosidosis
AssigneeUniversity of Massachusetts
InventorsMiguel Sena-Esteves, Cara Weismann, Diane Golebiowski, Lorelei Stoica
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Abstract
Aspects of the invention relate to recombinant adeno-associated viruses (rAAVs). In some aspects, the rAAVs comprise artificial genetic regulatory elements that modulate transgene expression. In some aspects, the disclosure relates to the treatment of lysosomal storage disorders.
Claims2
A method for treating GM1 gangliosidosis comprising administering a recombinant AAV (rAAV) to a subject having GM1 gangliosidosis, wherein the rAAV is administered by intracranial injection, intracerebral injection, or injection into the CSF via the cerebral ventricular system, cisterna magna, or intrathecal space, the rAAV comprising:
- a capsid containing a nucleic acid comprising a hybrid promoter comprising a chicken beta-actin (CB) promoter and a cytomegalovirus enhancer element, wherein the hybrid promoter is operably linked via a chimeric intron to a transgene encoding a human beta-galactosidase (GLB1) protein, wherein the chimeric intron comprises chicken beta actin intronic sequence and rabbit beta globin intronic sequence, wherein the nucleic acid does not comprise a woodchuck hepatitis virus post-transcriptional regulatory element (WPRE), wherein the capsid is serotype AAVrh8, and wherein the rAAV does not cause vector-mediated toxicity in the subject.
Dependencies are inferred from the claim text.