US 12,310,947 B2
Methods and compositions for unsilencing imprinted genes
Benjamin D. Philpot, Durham, NC (US); Kiran Ramesh Bettadapur, Bengaluru (IN); Hyeong-Min Lee, Cordova, TN (US); and Hanna Vihma, Chapel Hill, NC (US)
Assigned to The University of North Carolina at Chapel Hill, Chapel Hill, NC (US)
Appl. No. 17/625,604
Filed by The University of North Carolina at Chapel Hill, Chapel Hill, NC (US)
PCT Filed Jul. 16, 2020, PCT No. PCT/US2020/042379
§ 371(c)(1), (2) Date Jan. 7, 2022,
PCT Pub. No. WO2021/011802, PCT Pub. Date Jan. 21, 2021.
Claims priority of provisional application 62/874,777, filed on Jul. 16, 2019.
Prior Publication US 2022/0265607 A1, Aug. 25, 2022
Int. Cl. A61K 31/4155 (2006.01); A61K 31/166 (2006.01); A61K 31/42 (2006.01); A61P 25/00 (2006.01)
CPC A61K 31/4155 (2013.01) [A61K 31/166 (2013.01); A61K 31/42 (2013.01); A61P 25/00 (2018.01)] 5 Claims
 
1. A method of treating Angelman Syndrome in a human subject, comprising administering to the subject an effective amount of PHA533533 or a salt thereof, (R)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxopyrrolidin-1-yl)phenyl) propenamide, (S)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxooxazolidin-3-yl)phenyl) propenamide, and/or EPZ5676 in any combination, thereby treating Angelman syndrome in the subject.