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Foundation Fighting Blindness Launches Natural History Study for Usher Syndrome Type 3

• The Foundation Fighting Blindness is initiating a natural history study for Usher syndrome type 3 (USH3) to track vision and hearing changes. • The study aims to enroll up to 20 patients with the N48K mutation of the CLRN1 gene as part of the larger Uni-Rare study. • Researchers will gather data to enhance clinical trial design, patient recruitment, and identify optimal outcome measures for therapy development. • The four-year study is a collaboration with the Usher III Initiative to understand disease progression in real-world settings.

The Foundation Fighting Blindness, in collaboration with the Usher III Initiative, has commenced a natural history study focusing on Usher syndrome type 3 (USH3), the leading cause of combined deafness and blindness. The study will specifically examine individuals with the N48K mutation of the CLRN1 gene. This initiative aims to enhance the understanding of disease progression and improve the design and execution of future clinical trials.

Study Objectives and Design

The study, a component of the Foundation's broader Uni-Rare natural history study, intends to enroll up to 20 patients over four years. The Uni-Rare study encompasses approximately 1,500 patients with various inherited retinal diseases (IRDs) across more than 30 clinical research sites in the US, EU, and other countries. Clinical researchers will meticulously record changes in both vision and hearing within the USH3 cohort. The primary objectives include identifying potential patients for clinical trials, gaining deeper insights into disease progression, and determining optimal clinical trial outcome measures to facilitate regulatory approval for emerging therapies.

Expert Perspectives

Todd Durham, PhD, Senior Vice President of Clinical and Outcomes Research at the Foundation, emphasized the importance of this collaboration: "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, highlighted the study's critical role in clinical trial design and patient recruitment: "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."

Significance and Impact

Usher syndrome affects approximately 400,000 people worldwide and is characterized by combined deafness and blindness. With approximately 19 genes associated with Usher syndrome, understanding the natural history of specific mutations like N48K in CLRN1 is crucial. The data collected will inform clinical trial design and patient recruitment, accelerating the development of potential treatments for IRDs.
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Reference News

[1]
Foundation Fighting Blindness to conduct a natural history study of Usher syndrome type 3
modernretina.com · Aug 31, 2024

The Foundation Fighting Blindness, funded by the Usher III Initiative, is conducting a natural history study on Usher sy...

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