Research ROUNDUP
I’M PLEASED TO PRESENT A QUICK OVERVIEW of some of the exciting research
advances for inherited retinal
diseases made during 2017. It
was an exciting year, with several
promising therapies moving into
and through clinical trials.

Without a doubt, the FDA’s
approval of Spark Therapeutics’ gene therapy for Leber
congenital amaurosis and retinitis pigmentosa caused
by mutations in the gene RPE65 is one of the greatest
achievements ever made in eye research. Known as

LUXTURNA™, the gene therapy has enabled patients with severe vision loss to put away their canes, read print, and even see stars in the sky. LUXUTRNA is the first FDA-approved gene therapy for the eye or an inherited condition.

The treatment was made possible by two decades of earlier research funded by FFB.

We are also encouraged by progress in stem-cell research.

The company jCyte reported that its retinal progenitors — these are stem cells that have nearly developed into photoreceptors — performed safely in its Phase 1/2a clinical trial for people with retinitis pigmentosa (RP). There was also evidence the cells were saving vision for people receiving the highest dose of the treatment. jCyte’s therapy is designed to work independent of the mutated gene causing RP and may be beneficial to people with other retinal conditions.

X-linked retinitis pigmentosa is a relatively prevalent and aggressive retinal condition affecting primarily males.

Mutations in the gene RPGR are the leading cause of X-linked RP. But for those affected, there is great hope for a treatment to save and possibly restore vision from this form of RP. Three companies have launched, or will soon launch, gene therapy clinical trials for XLRP: AGTC in the U.S. and MeiraGTx and Nightstar in the UK. FFB funded earlier lab research in canines that provided strong evidence that gene therapy was an effective approach for treating XLRP.

In 2017, FFB also launched a natural history study called RUSH2A for people with mutations in the gene USH2A.

Defects in USH2A are a leading cause of Usher syndrome
type 2A, which causes both hearing and vision loss, as well
as retinitis pigmentosa without hearing loss. The goal of
the four-year study is to better understand how vision loss
progresses in people with USH2A mutations, so we can
better design clinical trials for USH2A treatments. The data
and knowledge gleaned from RUSH2A should ultimately
get more companies interested in developing USH2A
treatments.

Also in 2017, FFB announced up to $7.5 million in funding for Nacuity, a start-up company in Dallas developing a drug with vision-saving potential for RP and potentially other retinal conditions. Known as NACA, the cross-cutting drug is a strong antioxidant that performed well in lab studies at Johns Hopkins. Nacuity plans to launch a clinical trial for NACA in 2018.

Another emerging, cross-cutting therapy is being developed by the company SparingVision in France. It is a protein known as rod-derived cone viability factor (or RdCVF), which has shown promise for saving vision in people with RP and other related retinal conditions. RdCVF has been in development for more than a decade. FFB is investing up to 7 million euros in SparingVision, which plans to launch a clinical trial in 2019.

Keep in mind that I’ve only covered a few highlights in this overview — there are many more emerging therapies in development for a variety of inherited retinal conditions. In fact there are about 25 clinical trials underway for therapies for RP, Stargardt disease, retinoschisis, Usher syndrome, LCA, and achromatopsia. Dozens more are underway for the dry and wet forms of age-related macular degeneration. In addition, FFB is currently funding about 75 projects at prominent research institutions around the world.

You can stay up to date on these research advances and other great research efforts underway for retinal diseases by subscribing to FFB’s Eye on the Cure blog: www.blindness.org/blog.

To learn about clinical trials, visit www.Clinical Trials.gov.

And, make sure you register at www.MyRetina Tracker. org — FFB’s free and secure global patient registry — to help researchers better understand retinal diseases. The benefits of My Retina Tracker™ also include notifications of forthcoming clinical trials, FFB’s genetic testing program, and other studies.