Ciliopathies are a group of rare inherited genetic disorders and have long posed a significant challenge to the medical community. These diseases, affecting the function of cilia, microscopic finger-like organelles found in most cells, have devastating consequences for patients. Revised epidemiological analyses suggest that BBS affects between 1 in 70,000 – 1 in 100,000 in Europe and North America, and there is no treatment for the retinal degeneration. However, a groundbreaking solution is on the horizon. Introducing AXV101, the first gene therapy designed to combat ciliopathies and provide hope for those affected.
AXV101, the lead program developed by Axovia Therapeutics, is an adeno-associated virus (AAV9)-based gene therapy specifically targeting retinal dystrophy associated with BBS in patients carrying biallelic mutations in the BBS1 gene. This therapy aims to halt photoreceptor cell death and retinal degeneration, a hallmark of BBS. By delivering a functional copy of the faulty BBS gene using the AAV9 vector, AXV101 has the potential to transform the lives of patients suffering from this devastating disease.
Accelerated Development Plan and Clinical Trials
Thanks to ALSA Ventures’ investment and the dedication of Axovia Therapeutics, AXV101 is on an accelerated development path. The investment team has meticulously designed a development plan to ensure swift progress towards clinical trials. The first-in-man study is scheduled to commence in late 2024 or early 2025, aiming to achieve clinical proof of concept and subsequent approval. This rapid timeline reflects the urgency and commitment to providing a much-needed solution for BBS patients.
The Promise of AXV101: Restoring Hope for BBS Patients
AXV101 has demonstrated promising results in preclinical studies, offering hope to BBS patients worldwide. Professor Beales highlights that the gene therapy has the potential to modify the underlying disease of BBS, including halting retinal degeneration and rescuing vision loss. By utilizing the AAV9 vector, which is well-tolerated and has a proven track record in gene therapy, AXV101 represents a beacon of hope for patients facing the devastating effects of BBS.
For more information on Bardet-Biedl Syndrome and other eye diseases click here checkrare.com/diseases/ophthalmology-eye-diseases/
Reference
https://www.globenewswire.com/news-release/2023/09/19/2745463/0/en/ALSA-Ventures-la unches-novel-Gene-Therapy-portfolio-company-Axovia-Therapeutics-to-treat-Ciliopathies.html
