Avantea is proud to announce the publication in the prestigious journal Science Advances of the study titled “Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models” (Ferla et al., 2025), the result of a collaboration with TIGEM, AAVantgarde Bio, and other research institutions.
The study marks an important milestone in the development of gene therapy for Stargardt disease (STGD1), the most common inherited form of macular dystrophy. Using genome editing and somatic cell nuclear transfer (SCNT), the research team at Avantea developed the first ABCA4-KO pig model, capable of replicating the main pathological features of the disease, including the accumulation of lipofuscin in the retinal pigment epithelium (RPE).
This model enabled the evaluation of both the efficacy and safety of an innovative gene therapy based on dual AAV vectors with an intein system. The therapy demonstrated effective expression of the therapeutic ABCA4 gene and a significant reduction of pathological lipofuscin accumulation in the retina.
The project was carried out as part of a collaborative agreement with Fondazione Telethon and TIGEM, which made the development of this model possible.
This major achievement not only paves the way for clinical testing of gene therapy for STGD1, but also confirms Avantea’s role as a strategic partner in translational research across a range of diseases, thanks to its advanced expertise in genetic engineering and reproductive biotechnologies.