A new treatment to fix a genetic defect in familial dysautonomia
Official title: A one and done therapeutic strategy to correct ELP1 splicing defect in familial dysautonomia
Funded at Massachusetts General Hospital · NIH-11037141 · Data updated 2026-11-12
This study is testing a new treatment for familial dysautonomia, a genetic condition that affects the nerves and can cause vision loss, by using special techniques to fix a gene that’s not working properly, with the hope of helping patients feel better and live healthier lives.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | January 1, 2025 |
| Project end | December 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $250,500 |
| NIH project number | 1R21EY037018-01 |
| Project ID | NIH-11037141 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with familial dysautonomia who carry the specific ELP1 mutation.
✕Less likely to help
Patients without the ELP1 mutation or those with advanced stages of the disease may not benefit from this research.
What this research studies
This research aims to develop a groundbreaking therapy for familial dysautonomia, a genetic disorder that leads to severe neurological symptoms and progressive blindness. The approach involves using advanced genome editing techniques to correct a specific mutation in the ELP1 gene, which is crucial for nerve function. By delivering this treatment via adeno-associated viruses (AAV), the researchers hope to restore the production of the ELP1 protein in affected patients, potentially halting the progression of the disease and improving quality of life.
Why it matters
Potential benefit: If successful, this research could provide a one-time treatment that significantly improves neurological function and vision in patients with familial dysautonomia.
How similar studies have gone: Similar genome editing approaches have shown promise in other genetic disorders, indicating potential success for this novel treatment.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Morini, Elisabetta — Massachusetts General Hospital
- Study coordinator: Morini, Elisabetta
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.