Patent ID: 11952585
Assignee: HOMOLOGY MEDICINES, INC.
Field: Pharmaceuticals (Chemistry)
Classification: CPC A  C | IPC A  C

Claim 0:
1. A method for treating a subject having phenylketonuria (PKU), the method comprising administering to the subject an rAAV at a dose of about 6e13 vg/kg to about 1e14 vg/kg, wherein the rAAV comprises:
(a) an AAV capsid comprising:
a capsid protein comprising an amino acid sequence having at least 95% sequence identity with the amino acid sequence of amino acids 203-736 of SEQ ID NO:11, wherein the amino acid in the capsid protein corresponding to amino acid 346 of SEQ ID NO:11 is A, and wherein the amino acid in the capsid protein corresponding to amino acid 505 of SEQ ID NO:11 is R;
a capsid protein comprising an amino acid sequence having at least 95% sequence identity with the amino acid sequence of amino acids 138-736 of SEQ ID NO:11, wherein the amino acid in the capsid protein corresponding to amino acid 346 of SEQ ID NO:11 is A, and wherein the amino acid in the capsid protein corresponding to amino acid 505 of SEQ ID NO:11 is R; and/or
a capsid protein comprising an amino acid sequence having at least 95% sequence identity with the amino acid sequence of amino acids 1-736 of SEQ ID NO:11, wherein the amino acid in the capsid protein corresponding to amino acid 346 of SEQ ID NO:11 is A, and wherein the amino acid in the capsid protein corresponding to amino acid 505 of SEQ ID NO:11 is R; and

(b) a transfer genome comprising a silently altered PAH coding sequence operably linked to a transcriptional regulatory element, wherein the silently altered PAH coding sequence comprises a nucleotide sequence having at least 95% sequence identity to the sequence set forth in SEQ ID NO: 1, and encodes the amino acid sequence set forth in SEQ ID NO:13.