COLUMBIA, Md. and CHICAGO—The Foundation Fighting Blindness (FBB), 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 FBB’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 two organizations said. The study is evaluating inherited retinal disease patients at more than 30 clinical research sites in the U.S., EU and other countries.

The Foundation Fighting Blindness is an organization committed to driving the research for treatments and cures for blinding retinal diseases. 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.

Clinical researchers will capture information on both vision and hearing changes for the USH3 cohort of Uni-Rare. According to the organizations, results from the USH3 natural history study will help the clinical research community and therapy developers identify potential patients for future clinical trials; better understand disease progression; and 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," said 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.

"We are delighted to partner with the Foundation Fighting Blindness to launch a natural history study for USH3,” said Cindy Elden, co-founder and president of the Usher III Initiative. “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.