Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
Can you believe it’s been a full year since we launched our Grounded In Science Newsletter? Last month we celebrated Usher Syndrome Awareness Day on September 16th. Did you see any of our #USHDay2023 videos that we shared on social media? Thank you to everyone who submitted video entries to be featured!
A couple announcements before we dig in:
In the U.S., you can get four free at-home COVID-19 tests this fall on CovidTests.gov.
If you haven’t checked your account on the Usher Syndrome Data Collection Program (USH DCP) lately, now is the time to do so! Be sure to upload your genetic reports and fill in the surveys as they appear on your portal. We will start compiling some of the de-identified data to share with the community.
Research Spotlight
GenSight Biologics
GenSight Biologics is a gene therapy company studying treatments for degenerative eye and central nervous system diseases. They are working on using gene therapy, Mitochondrial Targeting Sequence (MTS), and optogenetics to develop therapies that can help prevent further degeneration in the eyes or even restore vision. Currently, their GS030 product is being studied for retinitis pigmentosa (RP). This product uses an AAV2 gene therapy vector to carry a photosensitive protein into cells.
In 2021, results from a study looking at GS030 in non-human primates were published. The study results provided proof-of-concept of retinal ganglion cell activation through GS030 using optogenetic gene therapy. There was demonstrated pattern discrimination which was estimated to be 20/249 visual acuity. These results helped the company get approval for a Phase I/II clinical trial titled PIONEER.
PIONEER is an open-label dose escalation study looking at the safety and tolerability of GS030. In 2023, GenSight Biologics announced there were signs of efficacy and tolerability in participants of the PIONEER trial one year after getting GS030. Data collected from some participants followed for more than one year have also demonstrated the safety and tolerability of the product. The most common adverse event that was observed in the eye was intraocular inflammation that responded to corticosteroid treatment. With this information, the Data Safety Monitoring Board reviewing these data has recommended that the extension cohort (participants are currently being recruited) should receive the highest dose.
In Case You Missed It: Science News Feature
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome
November 3, 2020: In this study, researchers set out to understand the relationship between genes that cause Usher syndrome and vestibular dysfunction. It had been typically thought that those with USH1 and USH3 present with vestibular dysfunction in addition to the visual and hearing impairments. However, based on this study they noted that the gene identification alone is not enough to accurately predict the presence of a vestibular dysfunction. They observed that individuals with USH2 also had vestibular dysfunction, even though most were asymptomatic and experienced normal balance.
What this means for Usher syndrome: Having more data with thorough documentation of the characteristics of Usher syndrome and how they are divided between the different types and atypical presentations of USH will allow clinicians to better diagnose and manage USH and researchers to better understand how to approach treatments.
DISCLAIMER: The Usher Syndrome Coalition does not provide medical advice nor promote treatment methods. USH Science News is intended to help summarize more complex literature for the community to use at their own discretion.
For more science news, check out our Science News page, organized by treatment approach and type of Usher syndrome.
On Well-Being: World Mental Health Day
October 10th is World Mental Health Day, which is why we launched our Grounded in Science Newsletter on this day one year ago. This year, the theme is mental health is a universal human right...
USH Life Hack of the Month
(Send your USH life hacks to info@usher-syndrome.org.)
For those of you who enjoy hiking but feel that your traditional white cane isn’t sturdy, consider checking out the All Terrain Cane.
“Whether you’re taking a stroll down the block, at the beach, on snowy sidewalks, your grandchild’s playground, or on the trails, the ATC gives you the power to explore where other mobility canes wouldn't dream to go.”
- All Terrain Cane
