Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
We’re excited to share updates from our revamped Science Education Friday series on social media! This spring, we started at the very beginning, explaining what Usher syndrome is, how genetics work, and breaking down the science in short, engaging content. Each week, we’ll continue to build from these fundamentals, making complex topics accessible and easy to understand for our community.
Stay tuned as we expand the series, covering research advances, treatment approaches, and the science driving progress for Usher syndrome.
RESEARCH SPOTLIGHT: BlueRock Therapeutics CLARICO Trial
BlueRock Therapeutics, a subsidiary of Bayer AG, announced that the FDA has granted Orphan Drug Designation (a special status given by the FDA for rare disease treatments) to its investigational treatment, OpCT-001, for retinitis pigmentosa (RP). RP is a group of inherited (genetic) eye diseases that cause gradual vision loss over time because the eye's light-sensing cells, called photoreceptors, slowly stop working.
OpCT-001 is an iPSC-derived cell therapy. iPSC stands for induced pluripotent stem cells. These are adult cells that have been reprogrammed in a lab back into a stem cell state, giving them the ability to develop into many different types of cells. In this case, the goal is to use them to create new, healthy photoreceptors and place them in the eye to help restore vision. This is the first-ever clinical trial of this type of stem cell therapy for photoreceptor diseases, so it’s a historic first in this area of research.
The treatment is currently being studied in a clinical trial called CLARICO, which is testing whether OpCT-001 is safe and effective. Because RP affects a relatively small number of people, drug companies often have less financial reason to develop treatments for it. There are simply fewer patients to sell to. The FDA created Orphan Drug Designation specifically to help fix that problem by offering companies extra funding and support to encourage them to develop treatments for rare diseases like RP.
What this means for the Usher syndrome community: Since vision loss in Usher syndrome is caused by photoreceptor damage due to RP, a treatment that replaces those cells could one day apply to the Usher community as well. It's still in early testing, but it's a meaningful step toward potential treatments that could one day restore vision for people with Usher syndrome.
Join the USH Trust to stay updated on clinical trials and opportunities to participate. Only ten questions need to be answered to register.
In Case You Missed It: Science News Feature
Voluntary running partially prevents photoreceptor cell death in retinitis pigmentosa
March 31, 2025: For people with Usher syndrome, vision loss often happens slowly over time. This study looked at retinitis pigmentosa (RP), the eye condition that causes vision loss. RP damages the light-sensing cells in the eye, which are needed to see, especially in low light. To better understand how to protect these cells, researchers studied mice with RP. Some of the mice were able to exercise by running on a wheel, while others were not. The mice that exercised maintained healthier eye cells. The researchers also observed higher levels of the hormone adiponectin in the mice that exercised. This hormone may help protect the retina and support eye health. Although this study was done in mice, it suggests that movement might help slow damage to the eye.
What this means for the Usher syndrome community: This study suggests that something as simple as physical activity may one day be part of a holistic plan to protect vision. Exercise is not a treatment, and more studies in people are needed. However, this research helps scientists understand how the eye responds to stress and what protective measures might be beneficial. Each discovery like this brings researchers one step closer to finding ways to slow vision loss and protect sight for people living with 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: Understanding and Connection
My Story | Anna Radová, Czech Republic
My name is Anna, and I am the mom of a five-year-old boy, Štěpán, who was diagnosed with Usher syndrome type 1D.
When we first heard the diagnosis, I felt completely lost. In the Czech Republic, almost nobody knows about Usher syndrome. There are no patient groups, no local resources, and very few doctors who really understand it. As far as I know, except for my son, there are two known adult patients with USH1D in our country. Finding the Usher Syndrome Coalition changed everything for me. Through your website, I finally found real, clear information — about genetics, research, and even ongoing clinical trials.
I also registered our family in the USH Trust and that helped me feel connected for the first time — to a bigger community, to people who know what we are going through. It gave me hope. And that hope turned into action. I started to reach out to other families, scientists, and organizations, and step by step, I created USH1D United — a small international network of families with the same rare subtype. We share what we know, we support each other, and we try to help raise awareness about CDH23-related Usher syndrome.
I really believe that awareness and connection can make a difference. If we bring people together and share knowledge, maybe we can help to move research a little bit faster — and one day, bring a treatment closer to our children. Thank you, Usher Syndrome Coalition, for helping me to start. For the information, the inspiration, and the feeling that we are not alone. Because this is, after all, about our children — and their future.
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.
USH Tip: Real Time Transcripts with Otter.ai for Inclusive Dialogue
Otter.ai creates provides real-time text for inclusive group conversations and dialogue as it happens through several key accessibility features:
Real-Time Live Captions: The app turns spoken words into a live, scrolling transcript on your screen, providing a visual backup if background noise makes speech harder to follow.
Speaker Identification: Otter.ai can learn and tag different voices, making it easier to follow who is speaking in a group setting.
Searchable Transcripts: Every conversation is saved and searchable. You can revisit the text later to clarify details or review information you may have missed in the moment.
Custom Vocabulary: You can add specific names or technical terms to the app’s dictionary to improve the accuracy of the transcription for your personal life or work.
Send your USH Tips to info@usher-syndrome.org
USHER SYNDROME DATA COLLECTION PROGRAM
As the world continues to get to know the individuals living with Usher syndrome, it's a great time to join the Usher Syndrome Data Collection Program - the USH DCP - so researchers can better understand this diagnosis.
If you'd like additional support enrolling, please reach out to Yael Saperstein, our Community Enrollment Coordinator for the USH DCP. Yael is an expert on the enrollment process, accessibility, and guiding new participants every step of the way. Contact Yael here: y.saperstein@usher-syndrome.org.
