Usher Syndrome Research Advances

NACUITY CONDUCTING CLINICAL TRIAL FOR ORAL ANTIOXIDANT THERAPY

Dallas-based Nacuity has launched a Phase 1/2 clinical trial in Australia for its oral antioxidant therapy. The trial is for people with Usher syndrome. The Foundation Fighting Blindness is investing up to $7.5 million to advance the promising, emerging drug for retinitis pigmentosa, Usher syndrome, and related conditions. Known as N-acetylcysteine-amide (NACA), the molecule is designed to slow vision loss by protecting retinal cells from oxidative stress. In previous Foundation-funded lab studies at Johns Hopkins University, NACA slowed retinal degeneration in rodent models of RP.

THÉA ACQUIRES PROQR’S EMERGING RNA THERAPY FOR USH2A EXON 13 MUTATIONS

Théa has acquired ProQR’s RNA therapy for people with Usher syndrome 2A or non-syndromic retinitis pigmentosa caused by mutations in exon 13 of the gene USH2A. Previously, ProQR reported that some patients in its Phase 1/2 clinical trial for the emerging treatment showed vision improvements. Théa plans further clinical development of the USH2A RNA therapy.

FOUNDATION FIGHTING BLINDNESS CONDUCTING RUSH2A NATURAL STUDY FOR PEOPLE WITH USH2A MUTATIONS

The Foundation Fighting Blindness has launched a natural history study for people with mutations in the USH2A gene, which are leading causes of Usher syndrome and retinitis pigmentosa. A major goal of the study, known as RUSH2A, is to better understand the course of vision loss in people with USH2A mutations, so that researchers can design successful clinical trials for potential therapies and identify patients for the treatment studies. More than 100 patients are enrolled at approximately 20 sites in the US, Canada, and Europe.

FOUNDATION LAUNCHES USH1F NATURAL HISTORY STUDY

The Foundation is partnering with the Usher 1F Collaborative, a family-founded nonprofit driving research for Usher syndrome type 1F (USH1F), to launch a natural history study, the Rate of Progression in PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F). Additional funding for the project will be provided by the Marjorie C. Adams Trust. USH1F is a subtype of Usher syndrome caused by mutations in the gene PCDH15.

ATSENA THERAPEUTICS DEVELOPING USH1B GENE THERAPY

Atsena Therapeutics is developing a dual vector AAV gene therapy for people with mutations in MYO7A, the gene, when mutated, causes Usher syndrome 1B. The Foundation is funding Atsena through its RD Fund, a venture philanthropy fund for emerging therapies in, or moving toward, clinical trials.

SMALL MOLECULE FOR USH3A MOVING TOWARD CLINICAL TRIAL

Dr. Farhan is completing pre-IND toxicity studies to advance a novel small-molecule therapy for USH3A into a Phase 1 clinical trial. The emerging drug works by stabilizing the misfolded USH3A protein (clarin-1) and enabling it to better move to its target location in retinal cells, thereby striving to preserve structure and function.

SEPTEMBER 2023