Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
Thank you to those who filled out the poll from our January Well-Being piece where you shared what well-being topics you want to read more about.
The “On Well-Being” series is for you, by you. We look forward to diving into your requests in the coming months, sharing the research and peer-reviewed literature that offers insight into well-being: the science behind staying grounded. Keep them coming!
USH Connections Conference | July 19-20, Rochester, NY + Online
Hosted in partnership with the National Technical Institute for the Deaf
There are only five months until the hybrid USH Connections Conference. We look forward to meeting you there or online! Register here.
Have you joined the Usher Syndrome Coalition Discord Community Server? It’s a safe place for the community to connect with each other. Join here: https://discord.gg/czwHGaDu7W
Research Spotlight
Kiora Pharmaceuticals and Théa Open Innovation
On January 31, 2024, it was announced that Kiora Pharmaceuticals entered an agreement with Théa Open Innovation (TOI) regarding the development and commercialization of KIO-301 and the treatment of inherited retinal diseases. In this agreement, Kiora will receive an upfront payment from Théa and will design and implement a phase 2 study while TOI will be responsible for phase 3 clinical trials and future commercial activities and marketing.
Kiora Pharmaceuticals is a clinical-stage biotech company developing treatments for orphan retinal diseases and has recently completed a stage I/II trial of KIO-301 in patients with retinitis pigmentosa (RP).
Théa Open Innovation is a sister company of the global ophthalmic specialty company Laboratoires Théa and may sound familiar because of the recent partnership between ProQR and Laboratoires Théa.
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). The way this potential therapy is proposed to work is that KIO-301 is able to enter RGCs and interact with voltage-gated ion channels of the cell membrane differently depending on the presence of light. When light is present, the shape of KIO-301 is altered, which then changes the flow of current generated from the voltage-gated ion channel and results in signaling to the brain. In the absence of light, KIO-301 reverts to a lower energy shape, which stops the signaling to the brain.
The Phase I/II trial for KIO-301, ABACUS, was reported to have shown meaningful vision improvements in patients with late-stage RP including visual field improvements, visual acuity improvements and increased functional vision to complete activities of daily living. Kiora now plans to implement a Phase 2 multicenter clinical trial for retinitis pigmentosa in 2024.
What this means for Usher syndrome: This partnership will increase the likelihood of this potential drug therapy getting through the clinical trial process, and if effective, made available to the general public. Since this therapeutic strategy is gene agnostic, it could benefit the entire Usher community.
Check out our Current USH Research page specific to USH subtype as well as gene-independent therapeutic approaches.
In Case You Missed It: Science News Feature
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker
June 1, 2023: A group of researchers with the Ocular Genomics Institute analyzed a 1984-1991 study on the effects of vitamins A and E on retinitis pigmentosa to look for any biological correlations and modifiers to the original study’s results. The researchers sequenced DNA samples that had been recovered from many of the participants and used existing information from other participants to see what genetic mutations were present. Researchers also used implicit time, the time between light hitting the eye and the retina responding, to predict the severity of retinitis pigmentosa progression - a measure that had not been used in the original study. The original study had shown benefit from Vitamin A and adverse effects from Vitamin E. The Ocular Genomics Institute group included additional data that had not been included in the original study, added Vitamin A data from a subsequent study for a greater sample size, and used new analyses to determine a biological basis for effects. They found that with the implicit time prediction and additional data, there was no statistically significant effect from Vitamin A and a slightly decreased negative effect from Vitamin E compared to the original study.
What this means for Usher syndrome: This updated analysis reiterates the relevance of different genetic mutations and symptom presentations in retinitis pigmentosa and Usher syndrome. It also shows that Vitamin A supplementation is not effective enough on disease progression to be recommended, whereas Vitamin E should still be avoided. This research also suggests that other therapies need to be developed to slow the progression of retinitis pigmentosa in Usher syndrome.
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: Representation Matters
For better or worse, the media can profoundly influence our views on disability, our beliefs about ideals and cultural norms, and our sense of self. Stereotypes of disabilities, like deafblindness, are often perpetuated by the media, stemming from the viewpoint of the dominant majority: typical able-bodied individuals. When the average person doesn’t interact with individuals with disabilities, their perception is shaped through limited, and often inaccurate, depictions of disabilities in the media...
USH Life Hack of the Month
(Send your USH life hacks to info@usher-syndrome.org.)
Voice-enabled Makeup Assistant (VMA) is a voice-enabled app to help people with vision loss and blindness check their makeup application. Now available on Android as well as Apple. Learn more.
