Investigating treatments for vision loss in familial dysautonomia.
Official title: Optic neuropathy in familial dysautonomia: determination of disease mechanisms and functional rescue.
Funded at Schepens Eye Research Institute · NIH-11049740 · Data updated 2026-11-12
This study is looking for new ways to help people with familial dysautonomia, a condition that can cause vision loss, by testing different treatments to see which ones might help restore sight.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Schepens Eye Research Institute NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | April 1, 2025 |
| Project end | March 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $638,267 |
| NIH project number | 1R01EY036009-01A1 |
| Project ID | NIH-11049740 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with familial dysautonomia who are experiencing vision loss.
✕Less likely to help
Patients without familial dysautonomia or those whose vision loss is due to other causes may not benefit from this research.
What this research studies
This research focuses on familial dysautonomia, a neurodegenerative disorder that leads to progressive blindness due to the loss of retinal ganglion cells. The study aims to develop a targeted treatment for this condition by evaluating both systemic and local therapeutic approaches to restore visual function. Researchers will conduct detailed assessments of the retina's cellular and visual functions using advanced testing methods. By comparing the effectiveness of different treatment strategies, the research seeks to enhance our understanding of the disease and its impact on vision.
Why it matters
Potential benefit: If successful, this research could lead to effective treatments that restore vision and improve the quality of life for patients with familial dysautonomia.
How similar studies have gone: Previous studies have shown promise in using genetic and pharmacological approaches to rescue retinal function, indicating potential success for this research.
Where this research is happening
-
Schepens Eye Research Institute
Boston, United States Active
Researchers
- Principal investigator: Chekuri, Anil K. — Schepens Eye Research Institute
- Study coordinator: Chekuri, Anil K.
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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.