Rare and devastating ciliopathies such as Bardet-Biedl Syndrome (BBS) have no curative treatment,1 and is known to cause 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 and post-axial polydactyly (additional digits outside little fingers or toes).2,3,4
Ciliopathies are a group of more than 40 rare inherited genetic diseases linked to more than 950 genes that impact the function of cilia,5,6 microscopic finger-like appendages that sit atop most cells in the body.7
BBS, the first disorder to be described as ciliopathic, has a prevalence of 1 in 10,000 in Europe and North America.8 While there are more than 22 genes linked to BBS, ~40% of people with the disorder in Northern Europe and North America carry two mutations in the BBS1 gene.1,9,10
We are developing our first gene therapy for people with the most commonly mutated type, BBS1. Our novel gene therapy utilizes an adeno-associated virus (AAV) to deliver a functional copy of the faulty BBS gene in key tissues.
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.11,12
Our BBS1 novel gene therapy has already received Orphan Disease Designation and Rare Pediatric Disease Designation from the US Food and Drug Administration (FDA). Human phase 1 trials are anticipated to enroll in the first half of 2023.
We will utilize synergies from BBS1 to bridge our other pipeline programs, expediting our commercial opportunities.
|Disease: BBS1||Program: AXV101 & AXV102||
|Disease: Undisclosed Ciliopathy Asset||Program: AXV201||
|Disease: Undisclosed Ciliopathy Asset||Program: AXV301||