AAV-Pura gene therapy

AAV-Pura gene therapy is an adeno-associated virus (AAV) vector-based gene therapy designed to treat Pura Syndrome, a rare neurodevelopmental disorder caused by mutations in the PURA gene. The therapy aims to deliver a functional copy of the PURA gene to restore protein levels. In preclinical studies conducted at the University of Pennsylvania, neonatal intracerebroventricular (ICV) administration of the therapy in mouse models showed that while it aimed to rescue the phenotype, it resulted in unexpected toxicity and reduced survival in both heterozygous and wild-type mice. This suggests that PURA expression levels require precise regulation, as both deficiency and overexpression can be detrimental.

Other names

AAV-Pura