Patent ID: 11951183
Assignee: HOMOLOGY MEDICINES, INC.
Field: Pharmaceuticals (Chemistry)
Classification: CPC A  C | IPC A  C

Claim 0:
1. A packaging system for preparation of a replication-defective AAV comprising:
(a) a first nucleotide sequence comprising a first transcriptional regulatory element operably linked to a nucleotide sequence encoding one or more AAV Rep proteins;
(b) a second nucleotide sequence comprising a second transcriptional regulatory element operably linked to a nucleotide sequence encoding an AAV capsid protein; and
(c) a third nucleotide sequence comprising a transfer genome comprising, from 5′ to 3′:
(i) an AAV2 5′ inverted terminal repeat (ITR) nucleotide sequence;
(ii) a transcriptional regulatory element comprising, from 5′ to 3′, a human hepatic control region 1 (HCR1) and a human al-antitrypsin (hAAT) promoter;
(iii) a silently altered PAH coding sequence having at least 80% sequence identity to the nucleotide sequence of SEQ ID NO: 71, wherein the silently altered PAH coding sequence encodes the amino acid sequence set forth in SEQ ID NO: 23; and
(iv) an AAV2 3′ ITR nucleotide sequence.