Grounded in Science

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

February is an important month for awareness and advocacy. We recognize Low Vision Awareness Month, which brings attention to the experiences and needs of people with vision loss, and we observe Rare Disease Day on February 28 - a global day dedicated to raising awareness of rare conditions. 

This month provides an opportunity to increase understanding, strengthen community connections, and advance our shared commitment to education, research, and support.

RESEARCH SPOTLIGHT: USH3 BF844 Phase 1 study

We are excited to share that the Usher III Initiative (U3I) has moved BF844, a new potential treatment for Usher syndrome type III (USH3A), through a completed Phase 1 clinical trial in humans. This first-in-human study showed that BF844 was safe and well-tolerated, which is an important milestone achieved by less than 1% of new drugs. Reaching this stage places the program in a strong position to move toward studies that include patients. 

BF844 is designed to target the underlying cause of USH3A, with the goal of slowing or stabilizing vision and hearing loss over time. Phase 1 trials are only focused on safety, and were done in healthy volunteers, not patients, so results do not show whether the drug worked yet. In future Phase 2 studies, the goal is to learn whether BF844 can help preserve functional vision and hearing for as long as possible, which could improve independence and quality of life for people living with USH3A.

The Usher III Initiative is now preparing for a Phase 2 clinical trial, but first must complete a “bridge phase” to get ready. This includes:

  • Making more of the drug for Phase 2 studies
  • Finalizing a version of BF844 into an oral capsule that can be taken over longer time periods
  • Completing long-term safety studies needed for continued use

At the same time, U3I has started Investigational New Drug (IND) discussions with the FDA, identified clinical sites, and confirmed experienced investigators for Phase 2. They are also working with the Foundation Fighting Blindness on a long-term natural history study to better understand when treatment may be most helpful for people with USH3A.

The Usher III Initiative hopes to raise the funds needed to complete the bridge phase and to find a partner to support Phase 2 trials. These steps are important for moving BF844 forward and generating the data needed to help make this potential treatment available to patients sooner.

Check out our Current USH Research page specific to USH subtype as well as other gene-independent therapeutic approaches.

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

AAVantgarde Completes Enrollment in LUCE-1 Phase 1/2 Clinical Trial of AAVB-081 for Usher Syndrome Type B-associated Retinitis Pigmentosa

January 15, 2026: AAVantgarde is working on a new gene therapy and has launched a clinical trial for people living with Usher syndrome type 1B. The trial, called LUCE-1, is a Phase 1/2 clinical trial and has completed enrollment of 15 adults between the ages of 18 and 60. This study is focused mainly on checking whether the treatment, called AAVB-081, is safe when given as a one-time injection into the eye. Doctors will also watch for early signs that the therapy may help slow vision loss caused by retinitis pigmentosa (RP).

This gene therapy is designed to deliver a working copy of the MYO7A gene, which does not function properly in people with Usher syndrome type 1B. Because this gene is very large, researchers use a special two-part delivery system to carry it into retinal cells. There are currently no approved treatments for vision loss linked to this condition, making this milestone an important step. Researchers will now follow participants over time to collect safety data and share results as they become available.

What this means for the Usher syndrome community: This milestone shows continued progress toward treatments for Usher syndrome type 1B, a condition with no approved therapies for vision loss. While this trial is focused on safety, the information learned will help guide future studies and move research closer to real treatment options.

Link to article

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: Mental health survey for adults with IRDs

Retina International is conducting a multi-year study on the mental health and well-being of people living with inherited retinal degenerations (IRDs), including those with Usher syndrome. Adults (18+) living outside the Republic of Ireland who have an IRD, or caregivers/family members who provide digital assistance, are invited to participate.

The goal is to better understand how IRDs affect mental health and what factors are linked to these challenges. Participation is voluntary, and the study has ethics approval through the University of Melbourne.

Questions? Contact Dr. Ellen Moran at ellen.moran@retina-international.org.

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

USH Tip

White canes can be adjusted to fit individual needs and preferences. There are different cane tips for various terrains and what information they can provide. Flashlights can be clipped on to provide extra light in dim or dark settings.  These options can be found at Ambutech.

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.