AAV9-P3-NP

AAV9-P3-NP is an adeno-associated virus serotype 9 (AAV9) gene therapy candidate being developed for the treatment of sialidosis, a rare lysosomal storage disorder caused by mutations in the neuraminidase 1 (NEU1) gene. The therapy utilizes a single AAV9 vector to deliver both the human NEU1 gene and the protective protein/cathepsin A (PPCA) gene, driven by the authentic human NEU1 promoter (P3). PPCA is essential for the proper folding, stability, and lysosomal localization of NEU1. Preclinical studies in Neu1 knockout mice have demonstrated that administration via intracisternal, intracerebroventricular, or intravenous routes leads to widespread distribution of NEU1 in the central nervous system, clearance of lysosomal storage (LAMP1 accumulation), and improvement in motor performance, supporting its potential clinical development for sialidosis type I.