Axovia Therapeutics Announces Presentation of Preclinical Data Supporting Lead Program AXV-101 for Treatment of Blindness Associated with BBS1 Mutations at ASGCT

– Data show that AXV-101 halts photoreceptor and outer nuclear retinal layer (ONL)
degeneration in a dose-dependent manner

– Company to initiate clinical studies in 1H 2025 to treat blindness and progress AXV-101 program to also treat obesity by 2026


London, UK – May 10, 2024 – Axovia Therapeutics Ltd., a biotechnology company developing therapies to address the genetic causes of blindness and obesity, announced the presentation of preclinical data supporting lead program AXV-101, which is being developed to address blindness and obesity associated with Bardet-Biedl Syndrome (BBS). These data are being presented today by Co-Founder and Chief Scientific Officer, Dr. Victor Hernandez, at the 27th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT) being held in Baltimore, MD from May 7-11, 2024.

“Today’s presentation highlights that AXV-101 has demonstrated efficacy, safety and durability to halt retinal degeneration in the BBS1 animal model,” said Dr. Hernandez. “BBS patients carrying biallelic mutations in the BBS1 gene begin to experience vision loss in childhood leading to blindness before 20 years of age. Our novel gene therapy utilizes an adeno-associated virus (AAV9) to deliver a functional copy of the faulty BBS gene and these data give us further confidence in the therapeutic potential of our program.”

“We are very encouraged by these data which establish that AXV-101 acts in a dose dependent manner and we are diligently advancing this program toward clinical study initiation in the first half of 2025,” said Professor Phil Beales, Chief Executive Officer and Co-Founder at Axovia Therapeutics. “These data suggest that our BBS1 novel gene therapy can modify the underlying disease of BBS, including rescuing vision loss by halting retinal degeneration, but also supports our development efforts to correct the genetic cause of hyperphagia and morbid obesity that is a hallmark 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.”

In this study, neonatal and wild-type animals were dosed with a single bleb in five cohorts including two control groups dosed with AXV-101 formulation buffer and phosphate-buffered saline (PBS) and three cohorts with increasing doses of AXV-101 (1x10e9, 5x10e9 and 1x10e10 total viral genomes). The contralateral eye was used as an internal control. The study measured safety and efficacy during six months with optical coherence tomography (OCT) and functional preservation with electroretinogram (ERG). These data show that AXV-101 transduces the retina and expresses BBS1, halts retinal degeneration and sustains ONL thickness in a dose dependent manner.

Presentation details

• Title: AXV-101, a New Codon-Optimized BBS1 AAV9 Vector Halts Photoreceptor and Outer Nuclear Retinal Layer Organization Degeneration in a Dose-Dependent Manner
• Type: Poster Session
• Presenter: Dr. Victor Hernandez
• Poster Board Number: 1622
• Session Title: Ophthalmic and Auditory Diseases
• Date/Time: Friday, May 10, 2024 from 12:00-1:30 p.m. and 5:30-7:00 p.m. ET

About Bardet-Biedl Syndrome (BBS)
Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder associated with primary cilia dysfunction, presenting with retinal degeneration and morbid obesity, amongst other clinical features. There is no curative treatment for BBS. BBS affects between one in 70,000 – one in 100,000 in Europe and North America, with up to five times that prevalence in certain populations including the Middle East. BBS1 is the most commonly mutated gene found in BBS, with the missense BBS1 M390R mutation being the most common allele.

About Axovia Therapeutics Ltd.
Axovia Therapeutics is leading the development of therapies that address the genetic causes of blindness and obesity which are driven by ciliopathies. Ciliopathies are a group of more than 40 rare inherited genetic diseases linked to more than 950 genes that impact the function of cilia which are critical for protein transport and cellular signaling. The company is positioned to initiate clinical studies for its lead program for Bardet-Biedl Syndrome (BBS), AXV-101, in the first half of 2025 based on robust preclinical data, scaled manufacturing and established patient registries. The initial subretinal study is designed to halt photoreceptor cell death and retinal degeneration and the CNS delivery program, which will begin in 2026, will seek to address hyperphagia and obesity. AXV-101 has achieved U.S. Food and Drug Administration Orphan Drug Designation and Rare Pediatric Disease Designation. Axovia is backed by ALSA Ventures and was formed following decades of work on ciliopathies at University College London by co-founders Professor Phil Beales and Dr. Victor Hernandez. For further information, please visit


Professor Phil Beales
Chief Executive Officer