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Enzyme Replacement Therapy for Sanfilippo Syndrome

Mucopolysachharidosis Type III (MPS-III), also known as Sanfilippo syndrome, is an autosomal recessive disorder caused by deficiency in one the enzymes required for the step-wise lysosomal degradation of the glycosaminoglycan(GAG) heparan sulfate. Individuals affected by the disease present neurological dysfunctions and neurocognitive deterioration. Currently, there are no approved treatments available.

In collaboration with Phoenix Nest Inc, we employ human iPS-derived cell models to develop MPS-III disease models. As a whole, this work will generate important biomarkers to understand disease mechanisms and will facilitate the development of Enzyme Replacement Therapy (ERT) using Glucosamine (N-Acetyl)-6-Sulfatase (GNS) for treatment of MPS-IIID.

Valstar et al. J Inherit Metab Dis(2008) 31:240-252100