First Patient Enrolled in USH2A Natural History Study
Four-year study will follow patients at 20 clinical sites worldwide
(Columbia, MD) – The first patient has been enrolled in a four-year natural history study of people with mutations in the USH2A gene which are the leading cause of the combined vision and hearing loss associated with Usher syndrome type 2A and vision loss from autosomal recessive retinitis pigmentosa. There are currently no treatments for the vision loss associated with these inherited retinal diseases.
The Rate of Progression in USH2A-related Retinal Degenerations or RUSH2A study, funded by the Foundation Fighting Blindness’ (FFB) Clinical Research Institute, will follow 100 patients for four years and an additional 20 patients at a single clinical visit. The first patient was enrolled at the Retina Foundation of the Southwest, Dallas, Texas where Dr. David Birch is the principal investigator.
“A major challenge in providing prognoses for patients with USH2A mutations, and in designing clinical trials for potential therapies, is the wide variability in symptoms, rates of progression and severity of the disease,” says study chair Dr. Jacque Duncan. “This study will help the field gain a better understanding of how USH2A mutations cause vision and hearing loss in some patients and why other patients with normal hearing at birth develop vision loss.”
The RUSH2A study is the first project of the FFB Clinical Research Institute’s Clinical Consortium and is being coordinated by the Jaeb Center for Health Research in Tampa, Florida. The FFB Consortium is a network of centers of excellence that will participate in clinical studies to help accelerate the development of treatments for inherited retinal diseases. Consortium studies will provide researchers and clinicians with long-term data about disease on-set and progression. The data gained from natural history studies will identify more precise ways to measure treatment effects within clinical trials.
“The importance of this study is that it will provide a better understanding of the progression of retinal degenerations, information that will help attract more industry investment in developing treatments for inherited retinal and other rare diseases,” said Patricia Zilliox, PhD, FFB’s Clinical Research Institute’s chief drug development officer.
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Since the Foundation Fighting Blindness was established in 1971 it has raised more than $700 million toward its mission to prevent, treat and cure blindness caused by inherited retinal diseases. In excess of 10 million Americans, and millions more worldwide, experience vision loss due to retinal degenerations. Through its support of focused and innovative science, and by teaming with industry, the Foundation drives the research that has and will continue to provide treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and other inherited retinal diseases. Our goal is to advance the most promising retinal disease research in the world and across the spectrum of retinal degenerative diseases. You can help. Every donation moves us closer to a cure. Learn more about the Foundation at www.fightblindness.org