Imagine being born completely deaf or with profound hearing loss. Certainly, there are many challenges, but you find ways to navigate the hearing world. You learn sign language or get a cochlear implant. Through cultural and advocacy programs and education, you learn how to succeed in school, enjoy sports and social activities and plan for the future.
Now imagine that, sometime in adolescence or young adulthood, you notice you’re also having trouble with your vision. Maybe you bump into things more than you used to, or have trouble seeing in the dark. At first, you might think you just need glasses. But after a visit to the eye doctor, you discover you’re losing your vision to retinitis pigmentosa (RP).
This is often the sequence of events for people who have Usher syndrome, a genetic condition that leads to both hearing and vision loss. It’s the world’s leading cause of combined blindness and deafness, affecting as many as 400,000 people. While all retinal diseases are difficult, the one-two punch of Usher syndrome can be especially devastating. So halting and reversing its resulting vision loss is an important part of the Foundation’s mission.
That’s why I’m very excited to report that our partner Oxford BioMedica announced today the start of a clinical trial at Oregon Health & Science University for a gene therapy to treat Usher syndrome type 1B. Dr. Richard Weleber is leading the charge, and an article on the Foundation’s website provides details about the study and the condition.
Known as UshStat, the gene therapy is the first vision treatment specifically for Usher syndrome to move into a clinical, or human, trial. FFB funded years of lab research that made the study possible. I should also note that many of the RP projects and emerging treatments we fund — such as the drug TUDCA, which shows promise for preserving vision — may end up helping people with Usher syndrome.
The primary goal of the first phase of the UshStat trial is to evaluate safety, but Dr. Weleber and his team will also be looking at the treatment’s effect on vision. We’ll be sure to report initial results of the study as soon as we learn them.
People often ask me why Usher syndrome affects both hearing and vision. It all comes down to tiny tube-like structures called cilia, which work like a transport system, or conveyor belt, within retinal and inner-ear cells. Cilia move critical proteins and nutrients through the cells, a process that is necessary for their health and functioning. Usher syndrome is caused by genetic defects that ultimately lead to a breakdown in this transportation system, and, subsequently, hearing and vision are lost.
Defects in cilia-related genes are often a cause of other retinal diseases, such as RP and Leber congenital amaurosis, so they are, and will remain, an important area of research for us.