Our Science and Approach
We may be science-led, but we’re people-focused
Focus on Ciliopathies
Ciliopathies such as BBS have no disease-modifying therapies available
Ciliopathies are a group of more than 55 rare inherited genetic diseases linked to more than 950 genes that impact the function of cilia, microscopic finger-like appendages that sit atop most cells in the body.
Those with ciliopathic symptoms generally experience a “rare disease odyssey” where these patients report having waited 5-30 years for the correct diagnosis, with the initial diagnosis being incorrect in 40% of cases.
Our lead development program focus is on Bardet-Biedl Syndrome (BBS) which is known to cause at least 16 severe or life-threatening medical conditions including visual impairment that leads to early blindness, severe life-limiting obesity, learning difficulties, life-threatening kidney abnormalities, urogenital dysfunction, complex endocrine dysfunction and post-axial polydactyly (additional digits outside little fingers or toes).
Our Commitment to Ciliopathies
After decades of helping people with ciliopathies to manage medical conditions without dedicated treatments, Prof. Philip Beales and Dr. Victor Hernandez co-founded Axovia to develop treatments to address the disease burden for this group of disorders with a focus on preventing blindness and reversing obesity.
Robust preclinical data suggest that our BBS1 novel gene therapy can modify the underlying disease of BBS, including rescuing vision loss by halting retinal degeneration and correcting the genetic cause of hyperphagia and morbid obesity, hallmarks of BBS mutations. The potential to preserve vision and reverse obesity in patients with BBS1 would have profound and dramatic impact on the health and well-being of this community and we expect to begin an initial clinical trial in mid-2025.
Our second program targets the most common genetic cause of obesity. We expect to advance this program into clinical testing in 2026.
Our Approach
AAV Platform
Our novel gene therapy utilizes an adeno-associated virus (AAV9) to deliver a functional copy of the faulty BBS gene into 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.
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.