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

Axovia Therapeutics LTDAxovia Therapeutics LTD

Axovia Therapeutics LTD

– Data shows that AXV-101 shuts down the photoreceptor and outer retinal nuclear layer (ONL) degeneration in a dose-dependent manner –

– The company will launch clinical studies in the first half of 2025 to treat blindness and advance the AXV-101 program to also treat obesity by 2026 –

LONDON, May 10, 2024 (GLOBE NEWSWIRE) — Axovia Therapeutics Ltd., a biotechnology company developing therapies to address the genetic causes of blindness and obesity, announced the presentation of preclinical data supporting the AXV lead program -101, which is being developed to combat 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, 7-11 May 2024. .

“Today’s presentation highlights that AXV-101 has demonstrated efficacy, safety and durability in stopping 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 the age of 20. Our novel gene therapy uses an adeno-associated virus (AAV9) to deliver a functional copy of the defective 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 towards the initiation of the clinical study in the first half of 2025,” said Professor Phil Beales , CEO and co-Founder of Axovia Therapeutics. “These data suggest that our novel BBS1 gene therapy may modify the underlying BBS disease, including rescuing vision loss by stopping retinal degeneration, but also supports our development efforts to correct the genetic cause of hyperphagia and morbid obesity which is a characteristic of BBS mutations. . The potential to preserve vision and reverse obesity in patients with BBS1 would have a profound and dramatic impact on the health and well-being of this community.

In this study, neonatal and wild-type animals received a single bubble in five cohorts, including two control groups receiving AXV-101 formulation buffer and phosphate-buffered saline (PBS) and three cohorts receiving 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 effectiveness over 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, arrests retinal degeneration, and maintains ONL thickness in a dose-dependent manner.

Presentation Details

  • Title: AXV-101, a novel codon-optimized BBS1 AAV9 vector arrests degeneration of photoreceptors and retinal outer nuclear layer organization in a dose-dependent manner

  • Type: Poster session

  • Presenter: Dr. Victor Hernández

  • Billboard number: 1622

  • Session title: Ophthalmic and hearing diseases

  • Date hour : Friday May 10, 2024 from 12:00 p.m. to 1:30 p.m. and 5:30 p.m. to 7:00 p.m. ET

About Bardet-Biedl Syndrome (BBS)
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder associated with primary cilia dysfunction, manifesting as retinal degeneration and morbid obesity, among other clinical features. There is no cure for BBS. BBS affects between one in 70,000 and one in 100,000 people in Europe and North America, with a prevalence up to five times higher in certain populations, particularly in the Middle East. BBS1 is the most commonly mutated gene found in BBS, with the BBS1 M390R missense 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 due to 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, essential for protein transport and cell signaling. The company is poised to initiate clinical studies for its lead Bardet-Biedl syndrome (BBS) program, AXV-101, in the first half of 2025, based on robust preclinical data, large-scale manufacturing and of established patient registers. The initial subretinal study is designed to stop photoreceptor cell death and retinal degeneration and the CNS delivery program, which will begin in 2026, will seek to combat overeating and obesity. AXV-101 has been granted orphan drug designation and rare pediatric disease designation from the U.S. Food and Drug Administration. Axovia is backed by ALSA Ventures and was created after decades of work on ciliopathies at University College London by co-founders Professor Phil Beales and Dr Victor Hernandez. For more information, please visit


Professor Phil Beales
General manager
[email protected]