Mucopolysaccharidosis type ⅢB:a current review and exploration of the AAV therapy landscape
Courtney J.Rouse1
Victoria N.Jensen1
Coy D.Heldermon2
1.Lacerta Therapeutics,Alachua,FL,USA2.University of Florida College of Medicine,Gainesville,FL,USA
摘要：Mucopolysaccharidoses type ⅢB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha-glucosaminidase.This results in the aggregation of heparan sulfate polysaccharides within cell lysosomes that leads to progressive and severe debilitating neurological dysfunction.Current treatment options are expensive,limited,and presently there are no approved cures for mucopolysaccharidoses type ⅢB.Adeno-associated virus gene therapy has significantly advanced the field forward,allowing researchers to successfully design,enhance,and improve potential cures.Our group recently published an effective treatment using a codon-optimized triple mutant adeno-associated virus 8 vector that restores N-acetyl-alpha-glucosaminidase levels,auditory function,and lifespan in the murine model for mucopolysaccharidoses type ⅢB to that seen in healthy mice.Here,we review the current state of the field in relation to the capsid landscape,adeno-associated virus gene therapy and its successes and challenges in the clinic,and how novel adeno-associated virus capsid designs have evolved research in the mucopolysaccharidoses type ⅢB field.
机标关键词：landscapecurrentreviewridossaccopolpolyarid
论文发表日期：2024-02-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：5( 355-359 )
英文信息