Why Cell & Gene Therapy Focuses on the Eye

Many companies are developing cell and gene therapy for ocular diseases.

There are more than 25 companies developing cell and gene therapy (CGT) for ocular diseases with more than 60 active clinical studies.  The reasons for this focus on the eye are not limited to but include the following:

• Improved understanding … Significant progress has recently been made in the understanding of the pathogenesis and molecular mechanisms of diseases of the eye.  This knowledge and understanding have allowed scientists to correct mutations and underlying causes of diseases with cell and gene therapy approaches.  For example; the RPE65 protein is produced in a thin layer of cells at the back of the eye and is essential for normal vision.  There are more than 30 known mutations to the RPE65 gene, which make it one of the hottest molecular targets in the eye for cell and gene therapy.
• Safety and delivery … The eye itself is a safe target organ for gene therapy because the therapy can be directly delivered to the appropriate tissue without systemic exposure.  Also, the eye is considered immune-privileged due to the blood-ocular barrier.  In addition, regarding the design of clinical studies, the subjects’ other eye can be used as a control.  Another safety and delivery factor for gene therapy for the eye is the fact that a commonly used vector, adeno-associated virus (AAV), can be engineered to deliver DNA to many cell types in the eye.  AAV is considered a safe vector because it can be engineered to not integrate into the hosts’ genome, it normally causes a mild immune response, and it is not known to cause disease or be pathogenic.
• Important sense … Vision is arguably the most important sense for a safe and happy life.  The human eye is a gateway through which environmental light is sensed then sent to the brain for interpretation.  We perceive up to 80% of all impressions by means of our sight.  People with limited or no vision are willing to try new and experimental therapies to restore their sight.  Also many societies are willing to invest in these new and experimental treatments for ocular diseases.
• Recent success … In December 2017 Spark Therapeutics’ Luxturna became the first directly administered gene therapy product approved by the U.S. FDA.  Luxturna treats an inherited retinal disease due to mutations in both copies of the RPE65 gene.  In January 2018 Novartis licensed this gene therapy from Spark for all markets outside of the US.  More recently the UK’s National Health Service announced that they plan to make Luxturna accessible to patients.  This success continues to inspire other companies developing therapy for ocular diseases to focus on using cell and gene therapy technologies.

With all this recent focus on CGT development for ocular diseases, Absorption Systems has expanded its services to help these companies.  ABS offers specialized preclinical in vivo ocular models, GLP and non-GLP bioanalysis, pre-existing immunity & ADA testing, and a full suite of analytical services including potency for CGT products.