Usher Syndrome Research Advances
Recent developments in research on Usher Syndrome.
ProQR’s Emerging USH2A Therapy in Phase 2/3 Clinical Trial
ProQR, a developer of RNA therapies in the Netherlands, has launched a clinical trial for its emerging treatment, which targets retinitis pigmentosa and Usher syndrome caused by mutations in exon 13 of the USH2A gene. The first 14 patients in the trial – 8 with early-moderate disease and 6 with advanced disease – had vision improvements. The company is planning a Phase 2/3 trial for the treatment in late 2021. QR-421a is an antisense oligonucleotide (AON) — a small piece of genetic material — designed to mask exon 13 mutations in the RNA of USH2A. The Foundation Fighting Blindness is investing up to $7.5 million through its RD Fund to move QR-421a into and through the early stage clinical trial. The RD Fund, a venture philanthropy fund, was established in 2018 to provide investments for promising retinal degenerative disease therapies that are in, or moving toward, early human studies.
jCyte Stem-Cell Therapy Moving into Phase 3 Clinical Trial for RP/Usher Syndrome
The stem-cell therapy company jCyte reported promising results for its 85-participant Phase 2b clinical trial of its therapy for people with retinitis pigmentosa (RP), Usher syndrome, and related conditions. The company plans to launch a Phase 3 trial for the treatment in 2021. The treatment involves intravitreal injection of retinal progenitor cells (RPCs), which are stem cells that have partially developed into the retinal cells that make vision possible. Based on lab studies, researchers believe the treatment can preserve and potentially rescue the patient’s existing photoreceptors, thereby saving and possibly restoring vision. Administration of the treatment does not require surgery and can be performed in minutes in an outpatient setting. The RPCs are injected into the vitreous, the gel-like substance in the middle of the eye.
ReNeuron’s Stem-Cell Therapy Performs Encouragingly in Phase 2 Clinical Trial
ReNeuron, a stem-cell development company in the United Kingdom, has reported that 10 patients with retinitis pigmentosa (RP) have been treated with its stem-cell therapy in its Phase 2 clinical trial taking place at Massachusetts Eye and Ear Infirmary (MEEI). Most have shown vision improvements shortly after treatment. The treatment involves the injection of human retinal progenitor cells (hRPCs) — stem cells that have partially developed into photoreceptors — underneath the patient’s retina. Based on results from preclinical studies, researchers believe the injected hRPCs will integrate into the retina and fully develop into photoreceptors, replacing those lost to disease, thereby restoring vision. The Foundation funded previous research that made this trial possible.
SparingVision Plans Clinical Trial to Evaluate Sight-Saving Protein for RP
A spin-off of the Institut de la Vision, SparingVision was established to clinically develop and commercialize a protein known as rod-derived cone-viability factor (RdCVF). The emerging therapy performed well in several previous lab studies funded by the Foundation Fighting Blindness. Scientists demonstrated that RdCVF prevented or slowed the degeneration of cones, the cells in the retina that provide central and color vision and enable people to read, drive, and recognize faces. RdCVF is naturally secreted by rods, the retinal cells that provide night and peripheral vision. A clinical trial for the emerging therapy is planned for 2022.
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.
Nacuity Launches 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 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.