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US 12,247,213 B2Granted
Treatment of mucopolysaccharidosis IVA
AssigneesThe Nemours Foundation, REGENXBIO Inc.
InventorsShunji Tomatsu, Kazuki Sawamoto, Subha Karumuthil-Melethil, Olivier Danos
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Abstract
Provided herein are gene therapy methods for the treatment of mucopolysaccharidosis type IVA (MPS IVA) involving the use of recombinant adeno-associated viruses (rAAVs) to deliver human N-acetylgalactosamine-6-sulfate sulfatase (hGALNS) to the bone of a human subject diagnosed with MPS IVA. Also provided herein are rAAVs that can be used in the gene therapy methods and methods of making such rAAVs.
Claims16
A recombinant adeno-associated virus (rAAV) comprising:
- (a) an AAV capsid;
- and
- (b) a recombinant AAV genome comprising a human N-acetylgalactosamine-6-sulfate sulfatase (hGALNS) expression cassette flanked by AAV-inverted terminal repeats (ITRs), the hGALNS expression cassette comprising (1) a nucleotide sequence encoding hGALNS, and (2) a promoter operably linked to the nucleotide sequence encoding hGALNS, wherein the promoter is a liver-specific promoter or a liver- and muscle-specific promoter, and
- (a) comprises a nucleotide sequence that is at least 80% identical to SEQ ID NO:
- 16;
- or
- (b) comprises a nucleotide sequence that is at least 85% identical to SEQ ID NO:
- 16;
- or
- (c) comprises a nucleotide sequence that is at least 90% identical to SEQ ID NO:
- 16;
- or
- (d) comprises a nucleotide sequence that is at least 95% identical to SEQ ID NO:
- 16;
- or
- (e) comprises a nucleotide sequence that is at least 98% identical to SEQ ID NO:
- 16;
- or
- (f) comprises a nucleotide sequence that is 100% identical to SEQ ID NO:16.
16 more elements
Dependencies are inferred from the claim text.