Cell-based therapies and gene-independent approaches have the potential to benefit anyone with Usher syndrome, regardless of their subtype. Examples include stem cells, retinal progenitor cells, neuroprotection, optogenetics, nutritional approaches, etc. Here, we outline the various approaches that have the potential to help anyone living with Usher syndrome.
Each research project listed below will include a graphic of the research continuum. The gold box indicates where this project falls on the continuum, illustrating its progress towards reaching people living with Usher syndrome, from "Bench to Bedside."
Learn more about the different stages in the research continuum shown in the graphic below.
Gene-Independent Clinical Trials
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This study will test whether taking NAC long-term can slow the progression of vision loss in a person with RP. N-acetylcysteine is a strong antioxidant that is FDA-approved for acetaminophen (paracetamol) overdose.
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A Phase 1 clinical trial of Nacuity’s GMP-grade NPI-001 solution in healthy volunteers was completed with no serious adverse events. A randomized, placebo-controlled, double-masked, multicenter, Phase 1/2 clinical trial of Nacuity’s proprietary NPI-001 tablets, the SLO-RP Study, is enrolling patients with RP associated with Usher syndrome.
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On May 4, 2023, Endogena announced it had completed patient enrollment ahead of schedule in its Phase 1/2a trial of EA-2353 for the treatment of retinitis pigmentosa (RP). With the dose-escalation stage completed, the ongoing trial is now in the expansion cohort stage.
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jCell is a first-in-class allogeneic cell therapy in late-stage clinical development for retinitis pigmentosa. Phase 2b results announced in July 2020 showed that jCell therapy had promising efficacy and was well tolerated in patients. Based on these encouraging results, jCyte is excited to move toward a pivotal trial as soon as possible.
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KIO-301 is a potential drug therapy for RP acting as a molecular light switch, designed to re-assign light sensing capabilities from photoreceptors to a different type of cell in the retina, Retinal Ganglion Cells (RGCs). A Phase 2 trial for KIO-301 for the treatment of RP is expected to be initiated in Q4 2024.
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Cedars Sinai, a non-profit healthcare organization based in Los Angeles, has received authorizations from the FDA to launch a 16-person, Phase 1/2a clinical trial of human neural progenitor cells--stem cells that have almost developed into neural cells--for patients with RP. The trial is being funded by a $10.5 million grant from the California Institute for Regenerative Medicine. The study's principal investigator is Clive Svendsen, PhD, professor of Biomedical Sciences and Medicine and director of the Cedars-Sinai Board of Governors Regenerative Medicine Institute.
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Nanoscope Therapeutics reported positive top-line phase 2b data in Q1 2023 and is engaging the FDA and EMA on a path to approval.
Gene-Independent Research
Gene-Independent Approaches - Related Science News
Cell therapy, a cutting-edge therapeutic approach, involves transplanting healthy human cells to replace or repair diseased or damaged cells, thereby restoring function.
Many modalities are being evaluated for the treatment of retinal degenerative diseases such as retinitis pigmentosa (RP), including stem cell therapy where dead or damaged cells are replaced by healthy ones.
In June 2023, Nacuity announced they completed enrollment in the SLO-RP Phase I/II clinical trial of NPI-001 tablets.
In the summer of 2022, Endogena launched its first phase 1/2a study of EA-2353 for retinitis pigmentosa (RP).
In the summer of 2022, Endogena launched its first dosing of its phase 1/2a study of EA-2353 in retinitis pigmentosa (RP).
Researchers at the University of Wisconsin-Madison have been working with stem cells to grow organoids in a petri dish that resemble the retina.
Researchers used stem cells from an individual with retinitis pigmentosa (RP) caused by mutations in their USH2A gene to create retinal organoids (ROs), that mimics the retina to be used as an in vitro RP disease model.
Research is being conducted at the University of Pennsylvania School of Veterinary Medicine, with the University of Wisconsin, Children's Hospital of Philadelphia and the National Institutes of Health’s National Eye Institute for a cell therapy for people with retinal disorders.
A team of researchers from Germany's Center for Regenerative Therapies Dresden (CRTD) reported positive results in their pre-clinical studies where lab-grown human photoreceptor cells (cones) were transplanted into mice with damaged cones.
At the University of Wisconsin-Madison, researchers are studying stem cells and how they could potentially treat retinal diseases, including retinitis pigmentosa and Usher syndrome.
In a guest column at clinicalleader.com, the authors discuss the past and exciting future prospects of optogenetic therapies.
Researchers at the University of Wisconsin School of Medicine and Public Health were able to create retinal cells from human stem cells that can detect light and change it to electrical waves.
Researchers in China successfully created an induced-pluripotent stem (iPS) cell line using immune cells from the blood of a patient with Usher syndrome type 2A.
Researchers at Newcastle University are looking into creating treatments for common inherited eye conditions.
A recent biotechnology breakthrough is the organ-on-chip (OOC) technology.
AIVITA Biomedical Inc., a biotech company that specializes in new ways of using stem cells, recently conducted a preclinical study. Using human stem cells that they created, researchers created and tested a “total retina patch” for vision loss.
GenSight Biologics is a biopharmaceutical company that focuses on creating gene therapies for retinal neurodegenerative and central nervous system disorders. They have announced that the FDA has awarded Fast Track Designation of GS030, which uses AAV2 gene therapy combined with optogenetics to treat retinitis pigmentosa.
Researchers have been exploring stem cell therapies to treat vision loss, including vision loss caused by retinitis pigmentosa. Preclinical and clinical studies are showing that stem cell therapies could be new options.
A Phase 2 clinical trial was used to see if injecting human retinal progenitor cells (derived from stem cells) can improve vision and visual fields in people with retinitis pigmentosa (RP).
Nanoscope Therapeutics Inc., a clinical-stage biotechnology company, has recently announced that one of its drugs is approved for Phase 2b clinical trial.
Retinitis pigmentosa (RP) is a rare genetic disease that causes loss of photoreceptors, which are the light sensitive cells in the retina. This disease can lead to blindness and affects more than 2 million people worldwide. In a groundbreaking clinical trial led by Paris-based GenSight Biologics, a man who was blind for 40 years successfully regained some visual function with a technique called optogenetics. Optogenetics uses light to control neuron activity. In this study, a light-sensing protein called ChrimsonR was injected into the eye and delivered to the patient’s retinal cells. After a four-month period to allow his body to make ChrimsonR protein, the patient was fitted with special goggles that detect and shift incoming light into a specific color range. The patient was able to see high-contrast images and objects, and his brain activity was the same as someone with normal sight.
What this means for Usher syndrome:
More patients will need to be enrolled and evaluated, but if this study proves to be successful, RP patients who are blind may be able to regain some sight, increasing their quality of life. Because vision loss in Usher syndrome is a type of RP, this therapy may also be beneficial for Usher syndrome patients.
Individuals that have permanent damage to their photoreceptors are unable to repair or regenerate new photoreceptors. Researchers and engineers may have a possible solution for these individuals living with vision loss. They have worked to make new photoreceptors and a micro-molded scaffolding photoreceptor “patch.”
Magdalene Seiler, Ph.D., UCI associate professor has been awarded a five-year grant of $3,823,950 from the National Institutes of Health to do a preclinical study using rodent models. This study looks at an innovative co-graft method to permanently repair damaged retinas.
Photoreceptor precursor cells that were generated from stem cells were able to be successfully transplanted into the retina and demonstrate basic visual function.
In a recent study, retinal cells coming from adult human eye stem cells were successfully put into the eyes of monkeys.
