Finding ways to improve SMN protein levels in spinal muscular atrophy
Official title: Genetic Suppression of SMN Mutations in Spinal Muscular Atrophy
Funded at Ohio State University · NIH-10884302 · Data updated 2026-11-12
This study is looking at ways to improve a protein that's important for muscle health in people with spinal muscular atrophy (SMA) by testing new treatments that could help fix problems caused by certain gene mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project start | July 1, 2021 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $482,066 |
| NIH project number | 5R01NS123736-04 |
| Project ID | NIH-10884302 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with spinal muscular atrophy, particularly those with specific mutations in the SMN1 gene.
✕Less likely to help
Patients with spinal muscular atrophy who do not have SMN1 mutations or those with advanced stages of the disease may not benefit from this research.
What this research studies
This research investigates how to enhance the function of the SMN protein, which is crucial for muscle health, in patients with spinal muscular atrophy (SMA). By studying specific mutations in the SMN1 gene and their effects on protein function, researchers aim to identify potential treatments that could restore normal protein levels. The approach involves using genetically modified mice and cell cultures to test the effectiveness of identified suppressors that may help overcome the deficiencies caused by these mutations. This could lead to new therapeutic strategies for SMA patients.
Why it matters
Potential benefit: If successful, this research could lead to innovative treatments that improve muscle function and survival in patients with spinal muscular atrophy.
How similar studies have gone: Previous research has shown promise in using genetic approaches to enhance SMN protein levels, indicating that this line of investigation could lead to significant advancements in SMA treatment.
Where this research is happening
-
Ohio State University
Columbus, United States Active
Researchers
- Principal investigator: Burghes, Arthur H. M. — Ohio State University
- Study coordinator: Burghes, Arthur H. M.
Related research
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Therapeutic gene editing for spinal muscular atrophy
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SMN-independent approaches for spinal muscular atrophy
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Investigating speech development in children with spinal muscular atrophy after new therapies
This study is looking at how new treatments for spinal muscular atrophy (SMA) can help improve speech and communication skills in children and young adults aged 2 to 21, by comparing their speech abilities to what’s expected for their age.
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Correcting Genetic Errors for Spinal Muscular Atrophy
This research looks for new ways to fix the genetic problem that causes Spinal Muscular Atrophy, a condition that weakens muscles.
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.