Usher Syndrome Research Advances
Recent developments in research on Usher Syndrome.
Usher Syndrome Gene Therapy Clinical Trial Underway
The first-ever gene therapy for Usher syndrome is in a Phase 1/2a clinical trial at the Foundation-funded Casey Eye Institute, Oregon Health & Science University (OHSU), in Portland, and the Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts in Paris, France. The UshStat® treatment is being developed by Sanofi, and designed to halt vision loss in people affected with Usher syndrome type 1B, which is caused by defects in the MY07A gene. Based on results in lab studies, researchers believe a single UshStat treatment may last several years, perhaps a lifetime. FFB is funding the Paris site of the clinical trial and funded lab research that made the human study possible.
ProQR’s Emerging USH2A Therapy in 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 Phase 1/2 clinical trial is taking place at Retina Foundation of the Southwest in Dallas and the University of Michigan in Ann Arbor. Known as QR-421a, the treatment is intended to slow or potentially reverse vision loss. 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 Moves into Phase IIb Clinical Trial for RP/Usher Syndrome
The stem-cell therapy company jCyte has launched a Phase 2b clinical trial of its therapy for people with retinitis pigmentosa (RP). The 85-participant study is being led by Henry Klassen, MD, PhD. 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. Twenty-eight patients were enrolled in the safety-oriented Phase 1/2a trial for the treatment, which began in June 2015. Dr. Klassen says safety results from that trial have been encouraging.
ReNeuron’s Stem-Cell Therapy Moves into Phase II Clinical Trial
ReNeuron, a cellular therapy developer in the UK, has reported vision improvements in the treated eyes of the first three retinitis pigmentosa (RP) patients in the Phase 2 clinical trial for its proprietary human retinal progenitor cells (hRPC). Phase 2 patients in the ReNeuron study have more baseline vision and thus have more potential for visual improvement. The Phase II patients read an average of three additional lines (five letters per line) on a standardized eye chart after receiving the emerging treatment, compared to an average loss of one letter in their untreated eyes. The results demonstrate objective improvement in visual acuity compared with the baseline vision in their treated eyes, and compared to their untreated eyes. The patients have also reported subjective improvements in vision. The trial is being conducted at Massachusetts Eye and Ear and the Retinal Research Institute in Phoenix under the leadership of Jason Comander, MD, PhD, and Pravin Dugel, MD.
Company Formed to Advance RP Drug into a Clinical Trial
The Foundation Fighting Blindness is making an investment of up to $7.5 million to advance a promising, emerging drug for retinitis pigmentosa (RP), and potentially Usher syndrome, into and through a Phase 2 clinical trial. Known as N-acetylcysteine-amide (NACA), the molecule is designed to slow vision loss by protecting retinal cells from oxidative stress. In previous FFB-funded lab studies at Johns Hopkins University, NACA slowed retinal degeneration in rodent models of RP.
SparingVision Formed to Advance Sight-Saving Protein for RP
The development of a vision-saving treatment for people with retinitis pigmentosa (RP), and potentially Usher syndrome, is getting a major boost thanks to the formation of the French biotech SparingVision to move it into a clinical trial and out to the international marketplace. 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.
FFB Launches 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.