Eyeworld

I GENE THERAPY N FOCUS 32 | EYEWORLD | SEPTEMBER 2020 Contact Ciulla: thomasciulla@gmail.com Sohn: elliott-sohn@uiowa.edu "Education is extremely important for the physician because if you just send the patient for genetic testing, the doctor needs to explain that to the patient. To know what to test a pa- tient for, how to interpret the test, and commu- nicate this effectively to the patient and family are crucial," Dr. Sohn said. Timing is also important for effective gene therapy, Dr. Sohn said. Patients need to still have functional cells for a gene therapy to be effective. If cells are no longer functional, that's where a stem cell therapy could come into play. See page 37 for coverage of stem cell therapies and ocular conditions. "These have potential to be very important therapies because they could provide long-last- ing benefits to reduce treatment burden, but the clinical trials are still underway. We have to assess for inflammation and durability, whether they completely alleviate the need for further treatment in most patients or decrease the need for injections, which would be valid as well. We will also need to determine which patients bene- fit most," Dr. Ciulla said. Takeaways At this point, Dr. Sohn said the important thing for general and anterior segment ophthalmol- ogists to know about gene therapy treatment is that there is currently only one FDA-approved treatment, though several are in trials. "Accurate testing is very important for patients with inherited retinal diseases because they may have a disease that can be treated with an FDA-approved treatment or qualify for a trial for a non-RPE65-mediated inherited retinal disease," Dr. Sohn said. "With that comes the very important responsibility of understanding what the doctor is seeing on exam to identify a patient with an inherited retinal condition. Ed- ucating oneself about what these diseases look like on exam and by history and when to send these patients for testing or to an inherited eye disease specialist is of utmost importance." Dr. Sohn said his colleague Edwin Stone, MD, PhD, developed an educational website with images and videos of inherited retinal disease conditions, StoneRounds.org, to help provide ophthalmologists with a reference for inherited retinal diseases. continued from page 31 Categories of gene therapy •Gene augmentation: Adding a gene to a cell •Gene editing: Revising the existing genetic code •Gene inactivation: Silencing a gene, often a dominant negative one •Selective toxicity: Introducing "suicide" genes and immune sensitization, as in chimeric antigen receptor (CAR)-T cells to recognize cancer cells •RNA therapeutics: Targeting RNA instead of DNA within the gene Source: Thomas Ciulla, MD

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