Finding treatments to improve symptoms of Smith-Magenis Syndrome.
Official title: Therapeutics that Correct the Underlying Cause of Smith-Magenis Syndrome (SMS)
Funded at Neurosant Therapeutics LLC · NIH-10869445 · Data updated 2026-11-12
This study is looking at new treatments for Smith-Magenis Syndrome, a genetic condition that affects brain development, and aims to help improve the health and development of people with this syndrome by boosting a key gene.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Neurosant Therapeutics LLC NIH-funded |
| Lab location | 1 site (San Marcos, United States) |
| Project start | July 10, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $189,056 |
| NIH project number | 1R21HD115076-01 |
| Project ID | NIH-10869445 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children and adolescents aged 12 to 20 who have been diagnosed with Smith-Magenis Syndrome.
✕Less likely to help
Patients who do not have Smith-Magenis Syndrome or those outside the specified age range may not benefit from this research.
What this research studies
This research focuses on Smith-Magenis Syndrome (SMS), a genetic disorder caused by the deletion of a specific gene that affects brain development and function. The team has created a library of potential therapies aimed at increasing the expression of the Rai1 gene, which is crucial for neurodevelopment. By using pharmacological methods, the researchers aim to correct the underlying genetic issues associated with SMS, potentially improving the health and development of affected individuals. Patients may be involved in trials to test these new treatments as they become available.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that significantly improve the quality of life for individuals with Smith-Magenis Syndrome.
How similar studies have gone: While research on genetic therapies is ongoing, this specific approach to correcting Rai1 expression in SMS is novel and has not been extensively tested.
Where this research is happening
-
Neurosant Therapeutics LLC
San Marcos, United States Active
Researchers
- Principal investigator: Defrees, Shawn — Neurosant Therapeutics LLC
- Study coordinator: Defrees, Shawn
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.