Advancing Gene Therapies to Treat Eye Diseases

Avista Center for Connected Medicine SparingVision Translational Sciences

Virtual panel discussion, “A Vision of the Future,” features UPMC Enterprises portfolio companies Avista Therapeutics and SparingVision.

Ophthalmology is a key priority for UPMC and the development of advanced technologies that can address ocular diseases is an important focus area for UPMC Enterprises.

This commitment was highlighted in a recent virtual panel discussion that featured Alexander Anetakis, MD, a vitreo-retinal surgeon at UPMC and physician-advisor at UPMC Enterprises, and leaders of two Enterprises’ portfolio companies.

Dan Chung, MD, Chief Medical Officer of SparingVision, and Rob Lin, PhD, Chief Executive Officer of Avista Therapeutics, offered their insights on the role of gene therapies for treating inherited vision diseases in “A Vision of the Future: Advancing Gene Therapies to Treat Vision Diseases.” The hour-long virtual discussion focused on gene therapy treatment for ocular diseases, highlighting major industry milestones and significant advancements on the horizon.

“A Vision of the Future” was organized by The Institute for Precision Medicine at the University of Pittsburgh and UPMC and the Center for Connected Medicine at UPMC.

An on-demand replay of the discussion is available now.

Shared goal, distinct approaches

While SparingVision and Avista share the goal of mitigating vision loss caused by retinal disease with gene therapy, they each bring distinct strengths to the industry. SparingVision focuses on genomic medicine and aims to advance ocular disease drug discovery and development using gene therapy and genome editing. The company’s pipeline includes independent treatments for inherited retinal diseases, such as retinitis pigmentosa, which is a major cause of inherited blindness.

Avista Therapeutics, on the other hand, employs a unique quantitative, in vivo-based approach combined with clinical ophthalmology expertise. Its goal is to swiftly translate new gene therapies into clinical applications. Both companies are supported by UPMC Enterprises, which plays a significant role in translating scientific discoveries into commercial products.

The panel discussion, which was moderated by Dr. Anetakis, began with a brief description of the evolution of gene therapy and ophthalmology. Notably, genetic characterization has revealed 260 causative mutations linked to inherited retinal disorders. These revelations paved the way for gene therapy treatments that hold the potential to mitigate vision loss. By pinpointing faulty genes and replacing them with functional counterparts, gene therapies are designed to slow disease progression and potentially restore visual function.

Panelists detail opportunities and challenges

Dr. Chung emphasized that ophthalmology, particularly in genetics, offers exciting avenues for scientific exploration. His collaborative efforts with colleagues such as Dr. Jean Bennett and Dr. Albert M. Maguire from Penn Medicine during his tenure at Spark Therapeutics left an incredible mark on the industry.

Notably, Dr. Chung played a pivotal role in pioneering Luxturna — the first FDA-approved gene therapy designed to modify DNA and address an inherited form of progressive blindness. This groundbreaking achievement not only opened doors to additional industry opportunities, but also fostered innovation. However, despite Luxturna’s successful market debut, no additional approvals have been granted for new gene therapies targeting inherited retinal diseases over the past seven years, emphasizing the complexities involved in developing therapies.

“The three primary challenges with gene therapy are delivery, delivery, and more delivery,” said Dr. Lin when addressing a major industry hurdle. At Avista Therapeutics, Dr. Lin aims to tackle this challenge by focusing on several strategic approaches, intravitreal delivery, targeted mutations and insertions, and capsid variant research. He also expressed enthusiasm regarding Avista’s efforts to enhance the potency of capsid variants, mitigating inflammatory concerns, and exploring a suprachoroidal delivery route through the posterior segment of the eye.

Occurring in approximately one in 4,000 individuals, inherited retinal disorders affect an exceptionally small patient population. Within this already limited group, the numbers shrink further due to specific genetic defects. Dr. Chung stressed that a delicate balance is essential when working with such small patient cohorts.

In addressing the challenge posed by small patient populations, SparingVision directs efforts beyond single gene correction therapies to deliver new treatments to patients regardless of genetic cause. These therapies offer several advantages including broad reach and scalability. However, treating a diverse patient pool means not all genetic makeups align perfectly with therapy and some conditions will necessitate gene-specific approaches.

In closing, the experts engaged in an extensive dialogue covering a diverse range of technical topics, including cell therapy, optogenetics, CRISPR technologies, and gene therapy across various disease contexts. Their insights and groundbreaking work continue to shape the landscape of medical research and innovation. Following a thoughtful Q&A segment with the audience, the conversation concluded with a sense of shared knowledge and anticipation for the future of gene therapy for ocular diseases.

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