Creating a new treatment for Familial Dysautonomia
Official title: Development of a Splicing Modulator Compound for Familial Dysautonomia
Funded at Massachusetts General Hospital · NIH-11086116 · Data updated 2026-11-12
This study is working on a new treatment to help people with Familial Dysautonomia by using a special compound that may fix a genetic issue affecting their nervous system, with the goal of improving their health and quality of life.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | May 1, 2023 |
| Project end | May 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $154,717 |
| NIH project number | 5UH3NS132462-03 |
| Project ID | NIH-11086116 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Familial Dysautonomia, particularly those experiencing severe symptoms related to the condition.
✕Less likely to help
Patients with other forms of neuropathy or those without a diagnosis of Familial Dysautonomia may not benefit from this research.
What this research studies
This research focuses on developing a new compound to correct a genetic defect in patients with Familial Dysautonomia, a rare and serious condition affecting the nervous system. The approach involves optimizing a small molecule called kinetin, which has shown promise in correcting the RNA splicing defect that leads to reduced levels of a crucial protein, ELP1. The research aims to complete necessary studies to enable clinical trials, ultimately seeking to improve the health and quality of life for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to a new treatment that significantly improves neurological function and quality of life for patients with Familial Dysautonomia.
How similar studies have gone: Previous research has shown promise in using splicing modulators for similar genetic conditions, indicating potential for success in this novel approach.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Slaugenhaupt, Susan a — Massachusetts General Hospital
- Study coordinator: Slaugenhaupt, Susan a
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.