ARK Invest has said that we are in the “genomic age” of medicine. This entails: (i) tool providers that enable basic research, sharpen the precision of diagnostics, and guide personalized medicine; (ii) diagnostic platforms deploying data that informs the treatment of disease; (iii) and other companies deploying technology and data to create next-generation treatments and cures, increasing returns on therapeutic research and development for the first time in 20 years.1
As I consider eye diseases that eye care practitioners encounter, genomics certainly come to mind. Some of us may initially think of rare diseases such as Fabry’s, Leber’s, or retinitis pigmentosa, but I’d like to review some more common ones.
About 200,000 new cases of wet age-related macular degeneration (AMD) are diagnosed each year in North America.2 Thinking of these patients, most are elderly and because of the nature of their vision and/or systemic health, may need a caregiver to drive them to their appointments. Oftentimes, these patients with wet AMD require monthly injections which presents a large burden on many. Currently there are 235 clinical trials recruiting subjects on ClinicalTrials.gov for macular degeneration. In 2021, one company is planning two pivotal, Phase 3 clinical trials for RGX-314. , a gene therapy designed to greatly reduce the need for repetitive anti-VEGF injections.
In Fuchs’ Endothelial Corneal Dystrophy (FECD), the greatest increase (4.2 fold) occurred between the age groups 30-49 and 50-59.3 There haven’t been any new treatments for FECD for decades beyond 5% sodium chloride eye drops or ointments. FECD is still one of the leading indications for corneal transplantation whether full thickness or just posterior. Not only are these keratoplasties challenging, but there can likely be irregular astigmatism and long-term anti-inflammatory burden along with risk of rejection. Because of a strong association between CTG18.1 trinucleotide repeat expansion sequence and FECD, this may be a target for future gene therapy strategies.4
Lastly, myopia, particularly in its form with longer axial lengths also poses significant concern. The average patient living with myopia maculopathy is 48 years old with a best corrected visual acuity of 20/50.5 We know that signaling at the retinal, RPE, and choroidal levels is incredibly complex. Optical defocus, light levels, and dopamine are just a few of the many factors that influence eye growth. A few dozen genes are involved here and new companies are looking at compounds that can potentially suppress or inhibit myopia altogether.
As with most conditions, early intervention is far more effective than trying to save vision once ‘the train has left the station.’ Hopefully the acceleration of genomics and therapeutics in the coming years will lead to a better future for each and every one of our patients.
References are published in CRO Journal.