US 12,338,450 B2
Gene therapy constructs for treating Wilson disease
Christine Livingston, Lambertville, NJ (US); and Samuel Wadsworth, Shrewsbury, MA (US)
Assigned to Ultragenyx Pharmaceutical Inc., Novato, CA (US)
Appl. No. 17/417,619
Filed by Ultragenyx Pharmaceutical Inc., Novato, CA (US)
PCT Filed Jan. 3, 2020, PCT No. PCT/US2020/012131
§ 371(c)(1), (2) Date Jun. 23, 2021,
PCT Pub. No. WO2020/142653, PCT Pub. Date Jul. 9, 2020.
Claims priority of provisional application 62/834,830, filed on Apr. 16, 2019.
Claims priority of provisional application 62/788,324, filed on Jan. 4, 2019.
Prior Publication US 2022/0090131 A1, Mar. 24, 2022
Int. Cl. C12N 15/86 (2006.01); A61K 48/00 (2006.01); A61P 43/00 (2006.01)
CPC C12N 15/86 (2013.01) [A61K 48/0058 (2013.01); A61P 43/00 (2018.01)] 18 Claims
 
1. A recombinant nucleic acid construct comprising:
(a) a 5′-inverted terminal repeat (ITR) sequence;
(b) a promoter sequence;
(c) a nucleic acid sequence encoding the truncated human copper-transporting ATPase 2 (ATP7B) of SEQ ID NO: 8, in which metal-binding domains (MBDs) 1-3 have been deleted, but the serine-rich loop including two serine residues (S340 and S341) between MBD3 and MBD4 is present; and
(d) a 3′-ITR sequence.