This technology includes a series of novel benzene-1,4-disulfonamides that activate TRPML1 receptor. The TRPML1 receptor is a lysosomal Ca2+ channel that has been shown to be involved in controlling lysosome functions, among then the maintenance of the integrity of the plasma membrane and the modulation of autophagosome-lysosome fusion. The improved ability of the receptor to deliver Ca2+ ions to the cytosol had been correlated with its capacity to modulate autophagy and lysosome exocytosis. Therapeutically, this activation alleviates many diseases involving lysosomal dysfunction, such as lysosomal storage disorders, and membrane repair, like in muscular dystrophies.
Therapy for diseases involving lysosomal dysfunction (i.e., Gaucher’s Disease, Fabry Disease) and membrane repair (i.e., muscular dystrophies).
First-in-class treatment for diseases with no cure and limited treatment options.