Restoring 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-11302641 · Data updated 2026-11-12
This project tests a pill-like drug and a local gene therapy to try to protect and restore sight for people with familial dysautonomia.
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 | 2026 |
| Award (this year) | $795,539 |
| NIH project number | 5R01EY036009-02 |
| Project ID | NIH-11302641 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with familial dysautonomia who are experiencing progressive vision decline or thinning of the retinal nerve fiber layer would be the most relevant candidates for future trials based on this work.
✕Less likely to help
People without familial dysautonomia or individuals whose optic nerves have already suffered advanced, irreversible damage are unlikely to benefit from these preclinical therapies.
What this research studies
From your perspective as someone with familial dysautonomia, researchers are using a retina-specific animal model that carries the human ELP1 gene to mimic the vision loss you may experience. They will compare a systemic small-molecule treatment (SMC PTC680) and a local viral gene therapy (AAV2-U1a-ELP) to see which best prevents retinal ganglion cell loss. The team will measure retinal structure and visual function using imaging, electrophysiology, and behavioral vision tests. The findings will help clarify how the disease harms the optic nerve and which approach is most promising for future patient trials.
Why it matters
Potential benefit: If successful, these approaches could prevent or reverse vision loss in people with familial dysautonomia.
How similar studies have gone: Prior laboratory work showed that correcting ELP1 splicing or adding human ELP1 can save retinal ganglion cells in models, but actual restoration of visual function with these treatments has not yet been demonstrated.
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.