RNA Therapies for Inherited Retinal Diseases

Earlier this year, Fighting Blindness travelled to The Netherlands to attend a meeting hosted by ProQR; a clinical stage biotech company, developing RNA therapies for genetic retinal disease including Usher syndrome.

First…back to basics!

You may remember secondary school biology where you heard how DNA makes RNA and RNA makes proteins. Proteins are the final product and are necessary for the cells in your body to work properly. The scientific community like to call this process ‘The Central Dogma of Biology’, which explains the flow of genetic information from DNA to RNA to protein.

Genetic retinal diseases occur when there are misspellings (or mutations) in your DNA. This can then result in the formation of damaged RNA and ultimately in the development of proteins that do not function properly in the cell. Scientists are continuously exploring new ways with which to treat damaged genetic material. An area that has received a lot of attention recently is gene therapy. Gene therapy works by fixing or replacing the damaged DNA. There are currently many gene therapy approaches being explored both in the lab and in on-going clinical trials for the treatment of inherited retinal degenerations. In December 2017, Fighting Blindness welcomed the landmark approval of the first gene therapy for the eye and inherited retinal disease.

LUXTURNA (voretigene neparvovec-rzyl) is now approved in the United States for the treatment of patients with inherited retinal disease due to DNA mutations in both copies of the RPE65 gene.

RNA therapy is another alternative approach being explored by scientists to treat damaged genetic material. These are delivered as a type of drug that works by targeting a very specific part of damaged RNA. One of the RNA therapies that ProQR are developing is targeted at Usher syndrome, in particular for individuals who have a mutation in exon 13 of the USH2A gene.

Fighting Blindness were joined in the Netherlands by other patient organisations in the USA, Canada and UK. Together, we shared insights and experiences to inform the development of ProQR’s upcoming clinical trial for patients living with USH2A, which is expected to start before the end of year. There remains a high unmet need for all types of Usher Syndrome, and participating in this patient advisory board was a wonderful example of public and patient involvement in research. We will ensure to keep you fully informed on any further developments.