rAAV2-U1a-hELP1

rAAV2-U1a-hELP1 (also referred to as AAV2-U1a-hELP1) is an investigational recombinant adeno-associated virus serotype 2 (rAAV2) gene therapy being developed by Tikun Therapeutics for the treatment of optic neuropathy associated with familial dysautonomia (FD). Familial dysautonomia is an autosomal recessive neurodegenerative disorder caused by mutations in the ELP1 gene, which leads to progressive loss of retinal ganglion cells (RGCs) and severe visual impairment. rAAV2-U1a-hELP1 utilizes a U1a promoter to drive the expression of a wild-type human ELP1 gene, aiming to restore physiological ELP1 protein levels in the retina, prevent RGC degeneration, and preserve visual function. The therapy is administered via intravitreal injection and has received Orphan Drug and Rare Pediatric Disease Designations from the U.S. FDA.

Other names

AAV2-ELP1 gene therapyAAV-2-ELP1 gene therapyAAV 2-ELP1 gene therapy