Axovia Therapeutics to Present Preclinical Data on AXV-101 for BBS1-Related Blindness at ASGCT

Axovia Therapeutics Ltd., a biotechnology company focused on therapies for genetic causes of blindness and obesity, announced new preclinical data for its lead program, AXV-101. This program specifically targets Bardet-Biedl Syndrome (BBS), a genetic disorder characterized by retinal degeneration and obesity. The data was presented by Co-Founder and Chief Scientific Officer, Dr. Victor Hernandez, at the 27th Annual Meeting of the American Society of Gene and Cell Therapy in Baltimore, MD.

Dr. Hernandez highlighted the efficacy, safety, and durability of AXV-101 in halting retinal degeneration in animal models of BBS1. BBS patients with biallelic mutations in the BBS1 gene typically begin losing their vision in childhood, often leading to blindness by age 20. The gene therapy uses an adeno-associated virus (AAV9) to deliver a functional copy of the BBS1 gene, aiming to correct the genetic defect. The data presented provides strong evidence for the therapeutic potential of AXV-101.

Professor Phil Beales, Chief Executive Officer and Co-Founder of Axovia Therapeutics, expressed optimism about the data, which shows that AXV-101 works in a dose-dependent manner. The company plans to start clinical studies in the first half of 2025, with the goal of not only preserving vision but also addressing the obesity associated with BBS1 mutations. This dual approach could significantly improve the quality of life for patients.

In the preclinical study, both neonatal and adult wild-type animals were given a single dose of AXV-101 in one eye, while the other eye served as a control. The study included five cohorts: two control groups and three groups receiving increasing doses of AXV-101 (1x10e9, 5x10e9, and 1x10e10 total viral genomes). The safety and efficacy of the treatment were evaluated over six months using optical coherence tomography (OCT) and electroretinogram (ERG) tests. The results demonstrated that AXV-101 effectively transduces the retina, expresses the BBS1 gene, halts retinal degeneration, and maintains the thickness of the outer nuclear layer (ONL) in a dose-dependent manner.

Bardet-Biedl Syndrome is an autosomal recessive disorder caused by primary cilia dysfunction, leading to retinal degeneration, obesity, and other symptoms. There is currently no cure for BBS, which affects between one in 70,000 to one in 100,000 people in Europe and North America, with a higher prevalence in certain populations, such as in the Middle East. The BBS1 gene is the most commonly mutated gene in BBS, with the BBS1 M390R mutation being particularly prevalent.

Axovia Therapeutics is spearheading the development of therapies for genetic causes of blindness and obesity linked to ciliopathies. Ciliopathies are a group of over 40 rare inherited diseases involving approximately 950 genes that affect cilia function, crucial for protein transport and cellular signaling. The company is preparing to launch clinical studies for AXV-101 in the first half of 2025, leveraging strong preclinical data, scalable manufacturing processes, and established patient registries. The initial subretinal study aims to prevent photoreceptor cell death and retinal degeneration, while a CNS delivery program set to begin in 2026 will address hyperphagia and obesity. AXV-101 has received Orphan Drug Designation and Rare Pediatric Disease Designation from the U.S. Food and Drug Administration.

Axovia is supported by ALSA Ventures and was established based on decades of ciliopathy research by co-founders Professor Phil Beales and Dr. Victor Hernandez at University College London.