Alpha-Glucosidase Chaperones and Inhibitors for Treatment of Pompe Disease
and Type 2 Diabetes
Lead Inventor: Juan Marugan (NCATS)
Inventors: Ehud Goldin (NHGRI), Noel Southall (NCATS), Wei Zheng (NCATS), Jingbo Xiao (NCATS), Ellen Sidransky (NHGRI), Omid Motabar (NHGRI)
Ref. No.: E-256-2010/0
Abstract: Scientists at the NIH have discovered small molecules that can act as chaperones and correct the misfolding of mutated alpha-glucosidase enzyme. Pompe disease is caused by deficiency or dysfunction of alpha-glucosidase. The only FDA-approved treatment of Pompe disease is enzyme replacement, which in this case costs approximately $300,000 per year and elicits an immune reaction in most patients that limits clinical utility.
Discovery of a Novel Noniminosugar Acid α Glucosidase Chaperone Series • Journal of Medicinal Chemistry • Sept. 13, 2012 • Probe Development Branch, NCATS Chemical Genomics Center
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one Analogues as GAA Activators • European Journal of Medicinal Chemistry • May 2010 • Probe Development Branch, NCATS Chemical Genomics Center