	US 12,247,213 B2
	Treatment of mucopolysaccharidosis IVA
Shunji Tomatsu, Wilmington, DE (US); Kazuki Sawamoto, Tokyo (JP); Subha Karumuthil-Melethil, Germantown, MD (US); and Olivier Danos, Princeton, NJ (US)
Assigned to THE NEMOURS FOUNDATION, Wilmington, DE (US); and REGENXBIO INC., Rockville, MD (US)
Appl. No. 17/263,049
Filed by REGENXBIO INC., Rockville, MD (US); and THE NEMOURS FOUNDATION, Wilmington, DE (US)
PCT Filed Jul. 26, 2019, PCT No. PCT/US2019/043631 § 371(c)(1), (2) Date Jan. 25, 2021, PCT Pub. No. WO2020/023857, PCT Pub. Date Jan. 30, 2020.
Prior Publication US 2021/0292789 A1, Sep. 23, 2021
Int. Cl. C12N 15/86 (2006.01); A61K 48/00 (2006.01)

CPC C12N 15/86 (2013.01) [A61K 48/0058 (2013.01); C12N 2750/14143 (2013.01); C12N 2830/008 (2013.01); C12Y 301/06004 (2013.01)]

16 Claims

1. 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

(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.