Usher syndrome is the most common genetic cause of combined deafness and blindness. More than 400,000 people are affected by this worldwide. There is currently no cure for Usher syndrome, but there is a growing USH community.
The mission of the Usher Syndrome Coalition is to raise awareness and accelerate research while providing information and support to individuals and families affected by Usher syndrome. We strive to be the most comprehensive resource for the Usher syndrome community, bridging the gap between researchers and families. Learn more and get involved.
“Heartbroken” Becca Meyers, a deafblind Paralympic athlete who has Usher syndrome, was told to navigate Tokyo alone. Instead, she takes a powerful stand for future generations.
Nanoscope Therapeutics Inc. announced that in their Phase 1/2a clinical study, a year following a single injection of Multi-Characteristic Opsin (MCO) into the eye, there was vision improvement in all patients with retinitis pigmentosa (RP). The MCO gene used in the study is delivered into the retina using AAV2 vectors. 3 patients received low dosage injections and 8 received high dosage. All patients in this study had objective and subjective improvements in functional vision. There was also improvement seen in mobility tests. Most opsins have a limited scope of clinical benefit because they have a narrow band of activation. MCO is sensitive to broadband light and can react to ambient lighting so there is no need for an external light device.
What this means for Usher syndrome: This new therapy seems to be able to restore some vision in patients with RP regardless of the type of mutation that causes it. Because vision loss in Usher syndrome is a type of RP, this new therapy could be beneficial to Usher syndrome patients.
Usher syndrome (USH) is the most common form of genetic deaf-blindness. Thus far there are no treatments for vision loss. Researchers were able to create a pig model for USH1C by introducing a human mutation into the USH1C gene in pigs. This successfully created an animal model with the hearing defect, vestibular dysfunction, and visual impairment found in USH. The primary cell isolated from these pig models and USH1C patients show elongated primary cilia compared to primary cells with no USH mutations. This finding confirms USH as a genetic disorder that affects cilia. The research also proves that there can be therapeutic benefits in gene supplementation and gene repair therapies.
What this means for Usher syndrome: Researchers have now confirmed that USH is a genetic disorder affecting cilia. Knowing this enables possible therapies like gene supplementation and gene repair.
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.
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