US 12,201,658 B2
Viral gene therapy as treatment for cholesterol storage disease or disorder
Charles P. Venditti, Kensington, MD (US); Randy Chandler, Washington, DC (US); and William J. Pavan, Derwood, MD (US)
Assigned to The United States of America, as represented by the Secretary, Department of Health and Human Services, Bethesda, MD (US)
Filed by The United States of America, as represented by the Secretary, Department of Health and Human Services, Bethesda, MD (US)
Filed on Sep. 25, 2020, as Appl. No. 17/033,166.
Application 17/033,166 is a division of application No. 15/565,065, abandoned, previously published as PCT/US2016/026524, filed on Apr. 7, 2016.
Claims priority of provisional application 62/144,702, filed on Apr. 8, 2015.
Prior Publication US 2021/0113635 A1, Apr. 22, 2021
Int. Cl. A61K 35/761 (2015.01); A61K 48/00 (2006.01); A61P 3/00 (2006.01); A61P 25/28 (2006.01); C07K 14/075 (2006.01); C12N 7/04 (2006.01); C12N 15/86 (2006.01); C12N 15/861 (2006.01)
CPC A61K 35/761 (2013.01) [A61K 48/005 (2013.01); A61P 3/00 (2018.01); A61P 25/28 (2018.01); C07K 14/075 (2013.01); C12N 7/04 (2013.01); C12N 15/86 (2013.01); C12N 15/8616 (2013.01); C12N 2710/10022 (2013.01); C12N 2710/10034 (2013.01); C12N 2710/10045 (2013.01); C12N 2750/14143 (2013.01)] 13 Claims
 
1. A method for treating or preventing a cholesterol storage disease or disorder in a subject, the method comprising:
administering a composition comprising (1) a therapeutically effective amount of an adeno-associated virus (AAV) viral vector comprising (a) a first AAV2 inverted terminal repeat (ITR) having exactly 130 base pairs, (b) a mini-elongation factor 1 α (miniEF1α) promoter, (c) an NPC1 gene sequence operably linked to the miniEF1α promoter, (d) a rabbit beta globin poly A signal, and (e) a second AAV2 ITR having exactly 130 base pairs, and (2) a pharmaceutically acceptable carrier to the subject,
wherein the cholesterol storage disease or disorder is caused by mutation or malfunction in the NPC1 gene of the subject,
thereby treating or preventing the cholesterol storage disease or disorder in the subject.