US 12,263,230 B2
Gene therapy for limb-girdle muscular dystrophy type 2C
Louise R. Rodino-Klapac, Columbus, OH (US)
Assigned to Research Institute at Nationwide Children's Hospital, Columbus, OH (US)
Appl. No. 16/966,407
Filed by Research Institute at Nationwide Children's Hospital, Columbus, OH (US)
PCT Filed Jan. 30, 2019, PCT No. PCT/US2019/015779
§ 371(c)(1), (2) Date Jul. 30, 2020,
PCT Pub. No. WO2019/152474, PCT Pub. Date Aug. 8, 2019.
Claims priority of provisional application 62/624,616, filed on Jan. 31, 2018.
Prior Publication US 2020/0360534 A1, Nov. 19, 2020
Int. Cl. A61K 48/00 (2006.01); A61K 45/06 (2006.01); A61P 21/00 (2006.01); C07K 14/47 (2006.01); C12N 15/86 (2006.01)
CPC A61K 48/005 (2013.01) [A61K 48/0075 (2013.01); A61P 21/00 (2018.01); C07K 14/4707 (2013.01); C12N 15/86 (2013.01); A61K 45/06 (2013.01)] 17 Claims
OG exemplary drawing
 
1. A recombinant AAV (rAAV) vector comprising an AAV capsid and a gene expression cassette comprising a polynucleotide sequence encoding γ-sarcoglycan and a muscle specific control element, wherein the polynucleotide sequence encoding γ-sarcoglycan is under the transcriptional control of the muscle specific control element, wherein the polynucleotide sequence comprises a nucleotide sequence at least 95% identical to SEQ ID NO: 1 or SEQ ID NO: 3.