Nov 27, 2019

Foundation Fighting Blindness Launches Natural History Study for People with RP Caused by EYS Gene Mutations

Press Releases

Known as Pro-EYS, the study will help researchers design clinical trials for potential therapies

Media Contact:
Chris Adams
Vice President, Marketing & Communications

COLUMBIA, Maryland – November 27, 2019 – The Foundation Fighting Blindness has launched a natural history study (NCT04127006) for people with retinitis pigmentosa (RP) caused by mutations in the gene EYS called the Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS). The goals of the international, four-year study include estimating the rate of disease progression and evaluating the usefulness of various outcome measures for future clinical trials for emerging therapies.

“This is an important study because it is characterizing one of the most common genetic causes of retinitis pigmentosa. Natural history studies, such as this, are critical for understanding the impact any therapy may have on the natural progression of disease. These efforts will help accelerate the development of treatments,” says Mark Pennesi, MD, PhD, Oregon Health & Science University, and study chair for Pro-EYS.

“The findings from this natural history study will be published and widely disseminated so that we can share what we learn with therapy developers from around the world,” says Todd Durham, PhD, vice president of clinical development and outcomes research at the Foundation. “Our goal is to boost and accelerate EYS therapy development for all commercial and academic researchers. One way we do this is to make de-identified data from the study accessible to researchers who can use it to design clinical trials. This study is a significant undertaking and we are grateful to the investigators, reading centers, laboratories, genetics experts, and study participants who make this possible.”

Pro-EYS has three participant cohorts:
1. Approximately 70 participants with visual acuity of 20/80 or better and visual field diameter 10 degrees or more.
2. Approximately 20 participants with visual acuity between 20/100 and 20/400 or with visual acuity of 20/80 or better and visual field diameter of less than 10 degrees.
3. Approximately 10 participants with visual acuity of 20/500 or worse.

After an initial baseline visit, participants will make four annual visits for exams and vision testing. Investigators will be evaluating several aspects of vision and retinal health including: visual fields, visual acuity, retinal sensitivity, and the size of the patient’s ellipsoid zone, the area of healthiest photoreceptors.

The following collaborators will be supporting this multi-year study:
Jaeb Center for Health Research
Duke Reading Center
Casey Reading Center
Blueprint Genetics
Kari Branham, MS CGC, University of Michigan
Stephen Daiger, PhD, University of Texas
Robert Hufnagel, PhD, NIH/NEI

The research sites are in the final steps of the approval process. For an up to date list of participating sites, individuals with retinal dystrophy associated with the EYS gene who are interested in participating in the Pro-EYS study should contact the Jaeb Center for Health Research by e-mail at or call 813-975-8690.

About the Foundation Fighting Blindness
Established in 1971, the Foundation Fighting Blindness is the world’s leading private funding source for retinal degenerative disease research. The Foundation has raised more than $750 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of retinal degenerative diseases including: retinitis pigmentosa, age-related macular degeneration, Usher syndrome, and Stargardt disease. Visit for more information.