Discover Our Science

We are developing the first gene therapy to treat diseases caused by cilia dysfunction

AAV platform

Our novel gene therapy utilizes an adeno-associated virus (AAV9) to deliver a functional copy of the faulty BBS gene in key tissues.

Since AAV is not known to cause human disease and can be tightly controlled (it does not replicate like disease-carrying viruses), it has been the gene delivery method of choice for a number of therapies including Luxturna for retinal disease and Zolgensma for spinal muscular atrophy with 149 AAV-based clinical trials underway/complete.1

Available clinical data, covering more than 3,000 people treated over more than 20 years, indicate that AAV gene therapy is a well-tolerated and efficacious form of therapy.1


We will utilize synergies from BBS1 to bridge our other pipeline programs, expediting our commercial opportunities.

Disease Program 2024 2025 2026
Disease: BBS1 (RoA1) Program: AXV101 Stage: Pre-Clinical
Disease: BBS1 (RoA2) Program: AXV102 Stage: Pre-Clinical
Disease: Undisclosed Ciliopathy Asset Program: AXV201 Stage: Discovery
  • Discovery
  • Pre-Clinical
  • First in Human

Key data

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 enrol at end of 2024.

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European Society of Gene & Cell Therapy

Complete rescue of BBS1 neurometabolic syndrome, brain ventriculomegaly and obesity with a unilateral intracerebroventricular delivery of an AAV9 expressing a codon-optimised BBS1 sequence

| Virtual Congress

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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European Society of Gene & Cell Therapy

Codon-optimisation for Bardet-Biedl Syndrome 1 (BBS1) and Bardet-Biedl Syndrome 10 (BBS10) genes for AAV constructs

| Virtual Congress

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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European Society of Gene & Cell Therapy

Gene therapy results in long-term rescue of photoreceptor function in a mouse model for Bardet-Biedl Syndrome 1

| Virtual Congress

The low levels of expression of BBS1 in photoreceptors may explain the inability to successfully rescue the retinal phenotype. We therefore explored the therapeutic effect of delivering BBS1 to the retinal pigmented epithelium cells, which are highly ciliated and crucial for photoreceptor survival.

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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. 3Jeyabalan-Srikaran J, et al. ESCGT; 19–22 Oct 2021, Virtual Congress.