I am always pleased to hear reports on human studies for retinal diseases. And such is the case with a research poster I just reviewed at the Association for Research in Vision and Ophthalmology (ARVO) annual meeting. It described a new clinical trial underway for a potentially life-changing gene therapy for people with autosomal recessive retinitis pigmentosa (MERTK mutations) taking place at King Khaled Eye Specialist Hospital in Saudi Arabia.
But before I report on that promising human study, I’d like to venture back in time and tell you how FFB funding of key research efforts made MERTK gene therapy possible. It’s also a story about the ubiquitous Royal College of Surgeons (RCS) rat — a rodent with a retinal degeneration that was, and continues to be, important to the study of retinal diseases.
In 1999, a Foundation-funded research team, which included Drs. Matt LaVail and Doug Vollrath, discovered that mutations in the gene MERTK caused retinal degeneration in the RCS rat. Subsequent Foundation-funded research revealed that MERTK mutations caused retinitis pigmentosa in humans. Dr. Vollrath, among other scientists, determined that MERTK played a critical role in the maintenance of photoreceptors, the cells that make vision possible.
Nearly 15 years later — with the disease culprit identified and extensive knowledge of how it causes vision loss made possible through additional FFB-funded research — a gene therapy for MERTK-linked retinitis pigmentosa is being evaluated in people. Six patients have been treated thus far, and they are doing relatively well.
While it is too early to make a definitive judgment about the treatment’s safety or efficacy, two patients have demonstrated some vision improvement, which is reason for cautious optimism. While restoring vision would be great, even halting vision loss would be a good outcome. Time will ultimately reveal the treatment’s true potential.
While perusing the MERTK poster, I had the privilege of meeting Dr. Nicola Ghazi, an investigator on the clinical trial. I also got a chance to catch up with Dr. Vollrath. But most exciting for me was to see the two investigators meet for the first time. They were truly delighted to acknowledge one another for their contributions in advancing the MERTK research.
Well, I am off to more meetings, posters and presentations. At ARVO, you never know who you’ll run into and the great advances they’re making toward life-changing treatments and cures.
Pictured, above: Drs. Nicola Ghazi (left) and Doug Vollrath.