Overview
In preclinical studies, our BBS1 novel gene therapy modified the underlying disease of BBS, rescuing vision loss by halting retinal degeneration, stopping BBS-induced weight gain and the development of obesity.1,2
Human Phase 1 trials are anticipated to begin enrollment in the middle of 2025.
Development of a ddPCR Assay to Quantify AXV-101 Levels for a Mouse Biodistribution Study
Link to poster presented at ASGCT 2025 meeting New Orleans
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A new dosing regimen to treat Bardet-Biedl Syndrome 1 (BBS1) retinal degeneration with AXV-101 (AAV9-BBS1) improves histological and functional photoreceptor survival in Bbs1 M390R mice. Finding the right balance between bleb number, dose per bleb and total dose per eye.
Link to poster presented at ASGCT 2025 meeting New Orleans
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New Preclinical Data for AXV-201, for Treatment of Genetic Obesity Caused by MC4R Mutations
Poster presented at ASGCT 2025 conference in New Orleans
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Expression levels of Bardet-Biedl Syndrome (BBS) genes change during retinal development showing an age depended dynamic regulation.
Chief Scientific Officer, Dr Victor Hernandez, presented a poster on the first gene therapy for the prevention of blindness in Bardet-Biedl Syndrome (BBS) at the 2025 ARVO annual meeting in Salt Lake City, Utah this week. This work describing expression of BBS genes during retinal development has implications for determinng the trial dosage levels.
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AXV-101, a New Codon-Optimised BBS1 AAV9 Vector Halts Photoreceptor and Outer Nuclear Retinal Layer Organisation Degeneration in a Dose-Dependent Manner
Chief Scientific Officer, Dr Victor Hernandez, delivered an insightful presentation on the first gene therapy for the prevention of blindness in Bardet-Biedl Syndrome (BBS) at The Global Cell & Gene Therapy Summit 2024.
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AXV-101, a new codon-optimised BBS1 AAV9 vector, halts photoreceptor and outer nuclear retinal layer degeneration in a dose-dependent manner
Bardet-Biedl syndrome is a debilitating inherited condition characterized by early-onset retinal blindness and severe obesity among other significant clinical problems. We have demonstrated that AXV-101 can halt functional and structural retinal degeneration in the murine mutant (M390R (Bbs1)) retinae in a dose dependent manner. The medium tested dose (3.33x1012vg/ml) is sufficient to sustain photoreceptor survival without any safety concerns.
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1Goswami R, et al. Front. Oncol. 2019;9:297. 2Fernandes Freitas Martins M, et al. ESCGT; 19–22 Oct 2021, Virtual Congress.