Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
This year is flying by, and we want to take a moment to pause and reflect on what we’re grateful for. At the top of our list is YOU, our Usher syndrome community. Thanks to your support, we held our largest USH Connections Conference yet, in Rochester, New York, and online. If you missed it, you can catch all the highlights and recorded presentations on our USH2024 Connections Conference Recap page.
As we approach the year’s end, we hope you’ll consider supporting the Usher Syndrome Coalition in this season of giving. By becoming an USH Visionary and making a monthly donation, you can make a lasting impact on our ability to bring this community together. Become an USH Visionary here.
Your donations help us do all we can to find, support and empower everyone living with Usher syndrome around the world. This includes hosting the USH Connections Conferences, sharing these Grounded in Science newsletters, regularly restructuring and updating our website, providing accessibility at our advocacy days on Capitol Hill, and so much more. Thank you for being part of our journey.
Research Spotlight
Progress toward treatment of Usher syndrome type 3A
The Usher III Initiative announced the start of its first Phase 1 clinical trial in humans to test a new oral drug called BF844. BF844 is considered a small-molecule drug therapy. This trial will study BF844 for the potential treatment of Usher syndrome type 3A (USH3A). USH3A is caused by mutations in the Clarin 1 (CLRN1) gene. Usher syndrome type 3 causes the progressive loss of hearing, vision, and balance.
This Phase 1 trial will assess the safety and tolerability of BF844 in 74 volunteers who do not have Usher syndrome. It will also examine how the drug is absorbed and moves through the body (pharmacokinetics). This trial will take place in Perth, Australia.
The Usher III Initiative is hopeful that BF844 will prove to be both safe and well-tolerated. Positive results will allow them to advance quickly into the next phases of development. The results from this Phase 1 trial are expected by late spring 2025.
Cindy Elden, president and co-founder of the Usher III Initiative, shared her excitement: “This is a huge step in our more than 20-year effort to find a treatment for Usher syndrome type III. If BF844 proves to be safe, we hope to move quickly to trials involving people with USH3.”
Dr. David Saperstein, a board member of the Usher III Initiative, said, "This trial is the result of years of hard work. Now that we’re testing this drug in humans, we’re eager to make progress toward a treatment for people with Usher III."
The Usher III Initiative has worked with top scientists, academic institutions, and groups like the Foundation Fighting Blindness to get BF844 to this point.
What this means for the USH community: If this Phase I trial is successful, future studies will enroll people with USH3A to see how well the drug works to potentially slow the progression of hearing and vision loss in Usher syndrome type 3A.
Check out our Current USH Research page specific to USH subtype as well as gene-independent therapeutic approaches.
In Case You Missed It
Your Research Resource has a fresh look!
We’ve made a few changes to our website. You can now navigate through research progress to treat Usher syndrome more easily! Check out the “Current USH Research” page to learn more about clinical trials and progress in research to treat Usher syndrome.
Research is organized by treatment approaches for all subtypes (gene-specific) of Usher syndrome, as well as gene-independent approaches that have the potential to benefit anyone with USH (i.e. cell therapy, neuroprotection, optogenetics, etc.)
For more science news, check out our Science News page, organized by treatment approach and type of 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. As always, consult with your trusted healthcare provider if you have questions or concerns about your situation.
ON WELL-BEING: The Positive Impact of Practicing Gratitude & Kindness
As we approach the season of giving thanks, it can be helpful to remember that gratitude and kindness are simple practices that can have a positive impact on how we feel...
We share the research and peer-reviewed literature that offers insight into well-being: the science behind staying grounded. Fill out this poll to request a topic.
DISCLAIMER: The information and resources on this website are provided for educational and informational purposes only and do not provide medical or treatment advice. Check out our mental health resources page on our website. As always, consult with your trusted healthcare provider if you have questions or concerns about your situation.
USH Life Hack of the Month
(Send your USH life hacks to info@usher-syndrome.org.)
Pouring beverage liquid indicators are a handy tool to alert you as you’re pouring liquids in a cup when to stop!
While we share information on assistive technology that may be beneficial, the Usher Syndrome Coalition does not endorse or promote any specific product.
