Developing chaperone therapy for lysosomal storage disease treatment – Treating Mucopolysaccharidosis IIIB with imino-sugars

Lysosomal Storage Diseases (LSDs) are a class of genetic conditions causing childhood development defects, dementia and early death in infancy or adolescence. LSDs affect 1 in 8000 children and have limited therapeutic options. For the treatable forms of LSD, current costs for therapy range from £200,000 - £400,000 per year with no cures available. The barrier between the blood circulatory system and the brain is the major block to treatment, requiring small molecules to be used. The defective proteins that cause some LSDs can be coaxed into their proper shape using small sugar-like molecules. We have developed a model of LSD where we can test small sugar-like molecules for their ability to promote formation of the normal shape of the causative protein and test for rescue of disease-associated behaviours in a fruit-fly. Our scheme is inexpensive and rapid and will allow further studies on model mice and eventually humans.