AAV9-PHP.eB-PURA

AAV9-PHP.eB-PURA is an investigational gene augmentation therapy designed for the treatment of PURA syndrome, an ultra-rare neurodevelopmental disorder caused by haploinsufficiency of the PURA gene. The therapy utilizes the AAV9-PHP.eB capsid, an engineered adeno-associated virus variant optimized for high-efficiency penetration of the blood-brain barrier and widespread transduction of the central nervous system (CNS) following systemic administration. The vector delivers a functional human PURA expression payload to restore levels of the Pur-alpha protein, which is critical for normal brain development and function. This program was initiated through a collaborative translational model involving the patient advocacy group Jack's Tomorrow, Apertura Gene Therapy, and The Jackson Laboratory. It is currently in preclinical development, with studies focused on defining the safe therapeutic window and assessing dosage sensitivity in wild-type models to inform future clinical strategy.

Other names

AAV9-PHP.eB-PURA gene therapyAAV-9-PHP.eB-PURA gene therapyAAV 9-PHP.eB-PURA gene therapyPURA gene therapy