AAV2.U1a.hELP1

AAV2.U1a.hELP1 is an adeno-associated virus (AAV) serotype 2-based gene therapy designed for the treatment of Familial Dysautonomia (FD), a rare autosomal recessive neurodegenerative disorder. FD is caused by mutations in the ELP1 gene, leading to deficient ELP1 protein expression and progressive optic neuropathy characterized by retinal ganglion cell (RGC) loss. This specific construct utilizes the U1a promoter to drive the expression of the human ELP1 (hELP1) transgene. In preclinical studies, intravitreal delivery of AAV2.U1a.hELP1 has demonstrated the ability to preserve visual function, improve contrast sensitivity, and attenuate retinal nerve fiber layer (RNFL) thinning even when administered after the onset of optic neuropathy.