Next-Gen-Vis

This project aims to develop innovative therapies for retinitis pigmentosa (RP), specifically targeting the untreatable LRAT subtype. By establishing a public-private partnership with Biogen, we combine resources and expertise from both sectors to accelerate research and develop effective treatment options for patients suffering from this debilitating condition.

Retinitis pigmentosa affects approximately 1 in 4,000 people globally, leading to significant vision impairment and a gradual loss of mobility and independence. Currently, the only approved treatment is for the RPE65 subtype, leaving many patients without options. The societal impact is substantial; as the population ages, the burden of vision-related disabilities is expected to rise, highlighting the urgent need for innovative solutions to preserve sight and improve quality of life.

Our project takes a multi-faceted approach, focusing on gene therapy and regenerative techniques to replace damaged retinal cells. In the initial phases, we inject healthy LRAT genes into rat eyes and create retinal tissue models from stem cells, providing a platform for testing therapies while reducing reliance on animal testing. Additionally, we explore the transplantation of differentiated stem cells into damaged retinal areas to restore function in affected eyes.

In WP1, key milestones such as AAV construction, rat breeding, and subretinal injections were successfully achieved, with visual evaluations and follow-ups conducted. For WP2, while significant progress was made in constructing stem cell lines, challenges arose in characterizing LRAT organoids and RPE due to the absence of observable phenotypes. In WP3, ocular surgeries were conducted with promising results, although maintaining rescued cultures could not be completed as no aberrant phenotype was detected. Overall, we developed a gene replacement therapy option that shows promising proof-of-concept data. We will explore the options of bringing this therapy to the clinic.