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.
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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Complete rescue of BBS1 neurometabolic syndrome, brain ventriculomegaly and obesity with a unilateral intracerebroventricular delivery of an AAV9 expressing a codon-optimised BBS1 sequence
Intracerebroventricular (ICV) delivery of an Adeno-associated virus 9 (AAV9) expressing human BBS1 (hBBS1) is able to ameliorate the neurometabolic phenotype in the Bbs1M390R/M390R mice.
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Codon-optimisation for Bardet-Biedl Syndrome 1 (BBS1) and Bardet-Biedl Syndrome 10 (BBS10) genes for AAV constructs
Our results show that a precise analysis of different constructs and codon-optimised sequences, is a requisite first step to test new constructs for AAV vectors before assessing for actual pharmacological efficacy.
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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.