Introduction
LSDs, PD, MPS IIIB
LYSOSOMAL STORAGE DISEASES, GENETIC DISORDERS, SANFILIPPO SYNDROME, SANFILIPPO SYNDROME TYPE B
Lysosomal storage diseases (LSDs) are a family of genetic disorders affecting the breakdown and recycling of complex molecules within the lysosomes (Sanfilippo syndrome, or MPS type III, is categorized into 4 subtypes, A–D, according to defects in genes coding for 4 different enzymes. Sanfilippo syndrome type B (MPS IIIB; Online Mendelian Inheritance in Man [OMIM] #252920) is specifically due to mutations in a gene coding for alfa-Endogenous NAGLU contains mannose-6-phosphate (M6P) residues, which enable receptor-mediated endocytosis and targeting to the lysosome where HS is degraded (The objectives of this study were to evaluate the safety, tolerability, and efficacy of tralesinidase alfa administered via an implanted i.c.v. device to patients with MPS IIIB. Here, we report the pharmacokinetics (PK) and pharmacodynamics (PD) results of our clinical investigation of tralesinidase alfa in the treatment of children with MPS IIIB over a 48-week period. Overall, the current study highlights the ability of tralesinidase alfa to alter the natural course of MPS IIIB and suggests that this positive effect may lead to meaningful clinical benefits.