Cure AP-4

Cure AP-4 refers to a gene therapy program and its lead candidate, AAV9-AP4E1, developed to address the underlying genetic cause of Spastic Paraplegia Type 47 (SPG47), a form of AP-4 deficiency syndrome. SPG47 is a rare, progressive neurodegenerative disorder caused by biallelic mutations in the AP4E1 gene, which encodes the epsilon subunit of the AP-4 adaptor complex. This complex is vital for the selective trafficking of proteins from the trans-Golgi network to the endosomal-lysosomal system; its dysfunction leads to neuronal defects and severe motor and cognitive impairment. The therapeutic approach utilizes an adeno-associated virus serotype 9 (AAV9) vector to deliver a functional human AP4E1 cDNA, typically via intrathecal administration, to restore complex assembly and cellular homeostasis. The program is a collaborative effort between the non-profit organization Cure AP-4 and UT Southwestern Medical Center, and it received FDA Investigational New Drug (IND) clearance for clinical trials in late 2023.

Other names

SPG47 gene therapySPG-47 gene therapySPG 47 gene therapyAP4E1 gene therapyAP-4E1 gene therapyAP 4E1 gene therapy