Foundation Fighting Blindness to conduct a natural history study of Usher syndrome type 3
The 4-year study is set to involve up to 20 patients and is a part of the Foundation's Uni-Rare natural history study.
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The Foundation Fighting Blindness, with funds from the Usher III Initiative, is conducting a natural history study of people with Usher syndrome type 3 (USH3) caused by the N48K mutation of the CLRN1 gene.
According to the Foundation’s press release1, approximately 400,000 people around the world are affected by various types of Usher syndrome, the leading cause of combined deafness and blindness. Approximately 19 genes have been associated with Usher syndrome.
In this study of Usher syndrome, clinical researchers will record information regarding both the vision and hearing changes in the USH3 cohort of Uni-Rare. The goal of this study is to better identify potential patients for future clinical trials, learn more about the disease progression, and identify optimal clinical trial outcome measures for obtaining regulatory approval for therapies.1
Todd Durham, PhD, senior vice president of clinical and outcomes research at the Foundation shared his thoughts on this study in the press release1, saying, "The Foundation is excited to include an USH3 cohort in our Uni-Rare natural history study. Collaborations like this help us characterize more patients and, ultimately, give therapy developers the data they need to optimize the design of clinical trials for emerging inherited retinal disease therapies."
Cindy Elden, co-founder and president of the Usher III Initiative, expressed enthusiasm about the next steps. She said, "We are delighted to partner with the Foundation Fighting Blindness to launch a natural history study for USH3. This study is critical for the successful design of our clinical trial and for effective patient recruitment. By understanding the progression of the disease in a real-world context, we can tailor our approach to meet the needs of those affected."1
The 4-year study is set to involve up to 20 patients and is a part of the Foundation's Uni-Rare natural history study. This broader study will enroll as many as 1,500 patients with a range of inherited retinal diseases (IRD). The Uni-Rare study is evaluating inherited retinal disease patients at more than 30 clinical research sites in the US, EU, and other countries. Data gathered during this research will be used to inform clinical trial design and patient recruitment for clinical trials as more potential treatments for IRDs are developed.1
