First Patient Enrolled in USH2A Natural History Study

Source: Foundation Fighting Blindness

Thursday, August 17, 2017 | Medical Studies , Retina


The first patient has been enrolled in a 4-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 4 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,” study chair Dr. Jacque Duncan said in an FBB news release. “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,” Patricia Zilliox, PhD, FFB’s Clinical Research Institute’s chief drug development officer, said in the news release.


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