Patent ID: 11865165
Assignee: nan
Field: Pharmaceuticals (Chemistry)
Classification: CPC A  C | IPC A  C

Claim 0:
1. A method of treating GNE myopathy in a subject, the method comprising administering to the subject a pharmaceutical composition comprising a recombinant Adeno-associated virus (AAV) vector comprising a DNA molecule encoding GNE or a therapeutic fragment thereof,
wherein the recombinant AAV vector has a capsid comprising amino acid residues corresponding to Asp-271, Asn-272, Tyr-446, Asn-470, and Trp-503 as described in SEQ ID NO: 18 and 19 as Asp-1 or 234, Asn-2 or 235, Tyr-176 or 409, Asn-200 or 433, and Trp-233 or 466, thereby directing entry of the AAV vector into cells of the subject without a need for sialic acid on the cells, and
wherein the GNE or a therapeutic fragment thereof comprises at least one mutation or variation within an allosteric domain of GNE.