US 12,031,136 B2
Treatment for skeletal diseases caused by intracellular protein trafficking defects
Yuji Kondo, Oklahoma City, OK (US); Jianxin Fu, Oklahoma City, OK (US); Hua Wang, Oklahoma City, OK (US); Klaas Wierenga, Oklahoma City, OK (US); Patrick M. Gaffney, Oklahoma City, OK (US); and Lijun Xia, Oklahoma City, OK (US)
Assigned to Oklahoma Medical Research Foundation, Oklahoma City, OK (US); and The Board of Regents of the University of Oklahoma, Norman, OK (US)
Appl. No. 16/758,339
Filed by Oklahoma Medical Research Foundation, Oklahoma City, OK (US); and The Board of Regents of the University of Oklahoma, Norman, OK (US)
PCT Filed Oct. 23, 2018, PCT No. PCT/US2018/057131
§ 371(c)(1), (2) Date Apr. 22, 2020,
PCT Pub. No. WO2019/084024, PCT Pub. Date May 2, 2019.
Claims priority of provisional application 62/576,360, filed on Oct. 24, 2017.
Prior Publication US 2020/0339997 A1, Oct. 29, 2020
Int. Cl. A61K 31/192 (2006.01); A61K 31/155 (2006.01); A61K 31/18 (2006.01); A61K 31/26 (2006.01); A61K 31/4045 (2006.01); A61K 31/436 (2006.01); A61K 31/575 (2006.01); A61K 38/05 (2006.01); A61K 38/07 (2006.01); A61K 38/08 (2019.01); A61P 19/08 (2006.01); C12N 15/113 (2010.01); C12N 15/64 (2006.01); A61K 45/06 (2006.01)
CPC C12N 15/1137 (2013.01) [A61K 31/155 (2013.01); A61K 31/18 (2013.01); A61K 31/192 (2013.01); A61K 31/26 (2013.01); A61K 31/4045 (2013.01); A61K 31/436 (2013.01); A61K 31/575 (2013.01); A61K 38/05 (2013.01); A61K 38/07 (2013.01); A61K 38/08 (2013.01); A61P 19/08 (2018.01); C12N 15/64 (2013.01); A61K 45/06 (2013.01)] 3 Claims
OG exemplary drawing
 
1. A method of treating a bone disease in a human caused by an intracellular protein trafficking defect comprising:
identifying a human subject having the bone disease caused by the intracellular protein trafficking defect in a membrane bound transcription factor peptidase, site 1 (MBTPS1) gene comprising elevated levels of blood lysosomal enzymes and skeletal dysplasia; and
providing the human subject with an effective amount of a composition that bypasses or corrects a defect in MBTPS1 gene expression, gene splicing, or corrects lysosomal protein trafficking wherein the composition comprises a chemical chaperone selected from the group consisting of phenylbutyrate, glycerol phenyl butyrate, sodium phenyl butyrate, and tauroursodexoycholate (TUDCA).