Dr Byron Lam Highlights Treatments in the Pipeline for Inherited Retinal Disease

Gene therapy is only one exciting area of treatments in the pipeline to potentially treat inherited retinal disease, said Byron L. Lam, MD, professor of ophthalmology, University of Miami Miller School of Medicine's Bascom Palmer Eye Institute.

Transcript

What types of treatments are being studied in the pipeline for inherited retinal disease?

We have so many exciting treatments in the pipeline for inherited retinal disease. I think in one category will be what we call gene therapy. But gene therapy is not just gene replacement therapy anymore. I think at this juncture we have the optogenetics, which is really to introduce a gene into the residual cells of the retina, and this gene will then transcribe into a protein that's light sensitive. This is for a patient with advanced inherited retinal diseases.

Another one will be the injection for what we call antisense RNA oligonucleotide treatment, and this is an intravitreal injection that corrects the problem in the messenger RNA level. That's another major breakthrough, and that still need to be tested. Then we have another particular approach, and that's CRISPR. The proof of concept, in terms of treating the patients, it's already starting.

Aside from those gene approaches, I will say there are also gene-agnostic approaches, which then we include, for example, supplementation, and there will be a NAC [N-acetylcysteine] supplementation, or you can even call it a medication treatment, that will be funded. There are also people looking at small molecules and other ways of treating inherited renal diseases. There is also a new treatment that sort of introduces small molecules and other molecules that may, in fact, draw stem cells into the retinal region. I think we have many different exciting inherited renal diseases treatment approaches.

For patients with inherited retinal diseases, what's the importance of genetic testing for diagnosis and treatment choice?

Genetic testing should be incorporated for inherited renal disease patients, because first of all, we have the approved treatment for RP65 [Luxturna, voretigene neparvovec-rzyl], and second of all, it also opens them to clinical trials. Most clinical trials require genetic confirmation of the retinal pigmentosa or other inherited retinal disease. Also, even if you don't have a study, and you don't have the approved treatment that's applicable, gene therapy still is very important in counseling the patient about the inheritance pattern, about the specific gene, about the prognosis, and that's all important in terms of treating the patient for low vision and also other supports.