Treating balance problems in Usher syndrome
Vestibular dysfunction and the development of therapies for Usher syndrome
This project uses gene-replacement and antisense approaches in mice and follows people with Usher syndrome to try to improve balance and inner-ear function.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Lsu Health Sciences Center NIH-funded |
| Lab location | 1 site (New Orleans, United States) |
| Project ID | NIH-11248763 on NIH RePORTER |
What this research studies
We're looking at how balance problems in Usher syndrome change over time in both a mouse model with the common USH1C mutation and in children, young adults, and adults with the condition. In mice the team will give antisense therapies and AAV-based gene replacement at different stages to see if hair cells and reflexes can be protected or restored. For people, the researchers will track vestibular (balance) function over time to compare with the animal findings and help identify the best timing for treatment. The work combines lab experiments, animal testing, and clinical measurements to link the biology to patient symptoms.
Who could benefit from this research
Good fit: Ideal candidates are children, young adults, and adults diagnosed with Usher syndrome type 1C (USH1C), especially those with the c.216G>A mutation, who are willing to undergo vestibular testing and follow-up.
Not a fit: Patients without the USH1C mutation, those with other genetic forms of Usher, or those with advanced irreversible inner-ear damage may not benefit from these specific therapies.
Why it matters
Potential benefit: If successful, these approaches could slow or restore balance function in people with Usher syndrome and help determine when treatments should be given.
How similar studies have performed: Related gene-replacement and antisense therapies have shown promise in animal models and some early human sensory-disorder trials, but applying them to vestibular dysfunction in Usher syndrome is relatively new.
Where this research is happening
New Orleans, United States
- Lsu Health Sciences Center — New Orleans, United States (Active)
Researchers
- Principal investigator: Lentz, Jennifer Jean — Lsu Health Sciences Center
- Study coordinator: Lentz, Jennifer Jean
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.