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US 12,064,486 B2Granted
Adeno-associated virus compositions for PAH gene transfer and methods of use thereof
AssigneeHomology Medicines, Inc.
InventorsAlbert Barnes Seymour, Seemin Seher Ahmed, Jason Boke Wright, Serena Nicole Dollive, Hillard Rubin
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Abstract
Provided herein are adeno-associated virus (AAV) compositions that can express a phenylalanine hydroxylase (PAH) polypeptide in a cell, thereby restoring the PAH gene function. Also provided are methods of use of the AAV compositions, and packaging systems for making the AAV compositions.
Claims20
An adeno-associated virus (AAV) genome comprising, from 5′ to 3′:
- (a) an AAV2 5′ inverted terminal repeat (ITR) nucleotide sequence;
- (b) a transcriptional regulatory element comprising, from 5′ to 3′, a human hepatic control region | (HCR1) and a human a1-antitrypsin (hAAT) promoter;
- (c) a silently altered phenylalanine hydroxylase (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 (d) an AAV2 3′ ITR nucleotide sequence.
3 more elements
An adeno-associated virus (AAV) genome comprising a nucleotide sequence at least 95% identical to a nucleotide sequence selected from the group consisting of SEQ ID NOs:
- 47, 49, 86, and 89.
Dependencies are inferred from the claim text.