Testing Compounds on MPS III Fibroblasts

December 31, 2015
Cure Sanfilippo Foundation has awarded a grant to Alexey Pshezhetsky, PhD, of St. Justine University Hospital (Montreal, CA) to conduct compound testing on MPS III fibroblasts.

Project Summary: Results of two previously-published studies in which MPS IIIA fibroblasts were treated with calcium channel blockers showed partial rescue of enzyme activity.

This study further evaluates the suitability of this drug class as chaperones in MPS III. It will investigate the action of L-type Ca2+ channel blocker and potential chaperone, diltiazem, on the residual level of the enzyme activity in skin fibroblasts from the MPSIIIA, MPSIIIC, and MPSIIID patients affected with missense mutations.

Also investigated was the possibility that diltiazem could be synergistic with the known MPSIIIC chaperone, glucosamine, the two substances were co-administered to cells.

Start Date: May 2015

Update February 2017: Study did not indicate rescue of enzyme activity in the presence of diltiazem or diltiazem/glucosamine combination in MPSIIIA cells. MPSIIIC cells did not show increased enzyme activity with diltiazem but did have an increase in activity with glucosamine.

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