Grounded in Science

A balance of research news and well-being for the Usher syndrome community.

We hope you had a safe Halloween and that you’re adjusting to the end of daylight saving time. This time of year is often hard for many in the Usher community because it means earlier evenings and less sunlight, which means less time when we can see. 

We want to remind you that even as the days get shorter, and the nights longer, the world keeps moving. Research keeps advancing, the sunshine-filled days will come back, and our USH Family will always be here.

Special Announcement: Launching the Usher Syndrome Data Collection Platform

Data collection is essential to treatment development. That's why we're so excited to invite you to the launch of the Usher Syndrome Data Collection Program, powered by RARE-X.

To learn more, register for this info session on November 16th at 3:00 PM ET. 

(This webinar is at no cost to the Usher syndrome community and will offer captions, ASL interpretation, and Spanish spoken language interpretation.)

The Usher Syndrome Coalition community is partnering with RARE-X, a 501(c)(3) nonprofit, to build a Data Collection Program for Usher syndrome individuals and families. By participating, you will help shed light on Usher syndrome like never before.

Clinical Trial Spotlight

Efficacy and Safety of vMCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa (RESTORE)

On October 10, 2022, Nanoscope Therapeutics received Fast Track Designation by the U.S. Food and Drug Administration (FDA) for MCO-010, for the treatment of retinitis pigmentosa (RP). The purpose of the FDA's Fast Track designation is to get important new drugs and treatments to the patient earlier.

Nanoscope Therapeutics’ clinical stage gene therapy focuses on restoring vision for people suffering from retinal degenerative diseases. Their gene therapy delivers light sensitive Multi-Characteristic Opsins (MCOs) into retinal cells with the potential to detect ambient light and improve activities of daily living.

In January 2022, 27 RP patients with advanced vision loss were enrolled in a multicenter, randomized, double-masked, sham-controlled RESTORE clinical trial of MCO-010. Top line data from this Phase 2b clinical trial are expected in the first half of 2023. 

ADDITIONAL RESOURCES:

For more, check out our Current USH Research page specific to USH subtype as well as other gene-independent therapeutic approaches.

In Case You Missed It: Science News Feature

Decreased activity of piriform cortex and orbitofrontal hyperactivation in Usher Syndrome, a human disorder of ciliary dysfunction

In this study, patients with Usher syndrome were shown to have an olfactory deficit compared to the normal population. Usher syndrome patients needed a higher concentration of odorant to perceive a smell. Using fMRI, it was also shown that Usher syndrome patients' prefrontal cortex (processing part of the brain) was more active, likely as a means to compensate for the relative under-stimulation.

What this means for Usher syndrome: Usher syndrome affects hearing and vision due to damaged cilia structure in the retina and inner ear. The olfactory system also has sensory input cells with cilia. In the past, there was not enough research to definitively say that Usher syndrome causes difficulty with sense of smell. This article suggests that in the near future, Usher patients will be able to receive a diagnosis for the lack of smell using functional neuroimaging.

For more science news, check out our Science News page, organized by treatment approach and type of Usher syndrome.

On Well-Being: Practicing Gratitude

 

As defined by the Oxford dictionary, gratitude is the quality of being thankful; readiness to show appreciation for and to return kindness...

USH Life Hack of the Month

(Send your USH life hacks to info@usher-syndrome.org.)

When visiting new and unfamiliar environments, try to get there early to get the lay of the land, and find the bathrooms and emergency exits. Getting there early can give back the feeling of power and control. It also gives you time to reduce anxiety and settle in before it gets too noisy and crowded.