Medications to restore RAI1 in Smith-Magenis syndrome
Official title: Therapeutics that Correct the Underlying Cause of Smith-Magenis Syndrome (SMS)
Funded at Neurosant Therapeutics LLC · NIH-11136553 · Data updated 2026-11-12
This project explores medicines that might raise RAI1 levels to help children and teens with Smith-Magenis syndrome.
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 | 2025 |
| Award (this year) | $195,944 |
| NIH project number | 5R21HD115076-02 |
| Project ID | NIH-11136553 on NIH RePORTER |
Who could benefit from this research
✓Could help
This work is aimed at people with Smith-Magenis syndrome caused by a deletion or loss of one RAI1 allele, particularly children and adolescents who typically show symptoms.
✕Less likely to help
People whose symptoms are caused by conditions unrelated to RAI1 loss, or those without SMS, are unlikely to benefit from these specific compounds.
What this research studies
Researchers are testing a small library of compounds chosen because they increase RAI1 (RAI1) expression. They will use lab assays and animal models to see whether these compounds raise RAI1 and correct the downstream gene-expression changes caused by the RAI1 deletion. The team aims to show a pharmacologic approach can fix many of the transcriptomic defects linked to SMS. If the lab results are promising, these findings could guide the development of future treatments for people with SMS.
Why it matters
Potential benefit: If successful, this work could lead to drugs that restore RAI1 activity and improve neurodevelopmental symptoms in people with Smith-Magenis syndrome.
How similar studies have gone: This is early preclinical work; some gene-boosting approaches have shown promise in lab models but have had limited translation to people so far.
Where this research is happening
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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.