AXV-101

AXV-101 is an investigational gene therapy developed by Axovia Therapeutics for the treatment of Bardet-Biedl Syndrome type 1 (BBS1), a rare genetic ciliopathy that leads to retinal degeneration and blindness, as well as obesity and hyperphagia. The therapy uses an adeno-associated virus serotype 9 (AAV9) vector to deliver a functional, codon-optimized copy of the *BBS1* gene directly to target tissues. Preclinical studies have shown that subretinal administration of AXV-101 can halt photoreceptor cell death and outer nuclear layer degeneration in animal models with BBS1 mutations, preserving vision in a dose-dependent manner. The program has received Orphan Drug Designation and Rare Pediatric Disease Designation from the FDA. Clinical trials are expected to begin in mid-2025 for blindness associated with BBS1 mutations, with plans to expand into treating obesity related to BBS by 2026[1][2][5][8].

Other names

BBS1 gene therapyBBS-1 gene therapyBBS 1 gene therapy