Foundation Fighting Blindness and Usher III Initiative Partner to Launch a Natural History Study for Usher Syndrome Type 3

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Aug 14, 2024, 07:30 ET

The four-year study will inform clinical trial design for emerging USH3 therapies.

COLUMBIA, Md. and CHICAGO, Aug. 14, 2024 /PRNewswire/ -- The Foundation Fighting Blindness, with funding from the Usher III Initiative, is launching a natural history study of people with Usher syndrome type 3 (USH3) caused by the N48K mutation of the CLRN1 gene. The four-year study of up to 20 patients is part of the Foundation's Uni-Rare natural history study, enrolling as many as 1,500 patients with a broad range of inherited retinal diseases (IRD) associated with more than 300 genes. 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 gleaned from Uni-Rare will inform clinical trial design and patient recruitment for clinical trials of emerging inherited retinal disease therapies.

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.

Clinical researchers will capture information on both vision and hearing changes for the USH3 cohort of Uni-Rare. Results from the USH3 natural history study will help the clinical research community and therapy developers: 1) identify potential patients for future clinical trials, 2) better understand disease progression, and 3) identify optimal clinical trial outcome measures for obtaining regulatory approval for therapies.

"The Foundation is excited to include an USH3 cohort in our Uni-Rare natural history study," says Todd Durham, PhD, senior vice president of clinical and outcomes research at the Foundation. "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."

The Usher III Initiative previously received a grant from the Foundation to fund part of the pre-clinical development of an oral small molecule drug aimed at treating patients with USH3. Additional funding is being sought to launch a Phase 1 human clinical trial for this emerging treatment.

Cindy Elden, co-founder and president of the Usher III Initiative, expressed enthusiasm about the next steps: "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."

The Jaeb Center for Health Research is the study's coordinating center. For more information about the study, please go to clinicaltrails.gov.

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 $915 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration, and Usher syndrome. Visit FightingBlindness.org for more information.

About the Usher III Initiative
The Usher III Initiative is a nonprofit research consortium dedicated to finding the cause and a cure for Usher syndrome type III, a rare genetic disorder marked by the progressive loss of both hearing and vision. Founded in 2007 by Cindy Elden and her father, the late Richard Elden, the Initiative has funded collaborative, therapy-directed, academic and industry research efforts. Visit UsherIII.org for more information.

About the Jaeb Center for Health Research
The Jaeb Center for Health Research was established in 1993 as a freestanding, nonprofit coordinating center for multi-center clinical trials and epidemiologic research. The Jaeb Center's focus is on projects involving eye disorders, diabetes, or cystic fibrosis. The Jaeb Center has partnered with the Foundation Fighting Blindness since 2016 with the establishment of the Foundation Fighting Blindness Clinical Consortium. Visit Jaeb.org for more information.

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SOURCE Foundation Fighting Blindness