Creating a lasting genetic treatment for spinal muscular atrophy
Official title: Development of in Vivo Base Editing as a Genetic Treatment for Spinal Muscular Atrophy
Funded at Massachusetts General Hospital · NIH-11012259 · Data updated 2026-11-12
This study is testing a new one-time genetic treatment for spinal muscular atrophy (SMA) that aims to help improve the lives of people with this condition by making precise changes to a key gene.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | February 1, 2024 |
| Project end | January 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $244,025 |
| NIH project number | 5K01NS134784-02 |
| Project ID | NIH-11012259 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 mutations in the SMN1 gene.
✕Less likely to help
Patients with spinal muscular atrophy who do not have mutations in the SMN1 gene may not benefit from this research.
What this research studies
This research focuses on developing a permanent genetic treatment for spinal muscular atrophy (SMA), a severe neuromuscular disease. The approach involves using optimized base editing techniques to make precise genetic changes in the SMN2 gene, which is crucial for producing the SMN protein. By utilizing adeno-associated viruses for delivery, the goal is to provide a one-time treatment that could significantly improve the lives of patients suffering from SMA. The research will be conducted in mouse models to evaluate the effectiveness of this innovative therapy.
Why it matters
Potential benefit: If successful, this research could lead to a one-time, permanent treatment for spinal muscular atrophy, potentially transforming patient outcomes.
How similar studies have gone: Previous research has shown promise with genetic therapies for SMA, but this approach using base editing is relatively novel and untested in clinical settings.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Alves, Christiano — Massachusetts General Hospital
- Study coordinator: Alves, Christiano
Related research
Other NIH-funded projects on the same topics.
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Therapeutic gene editing 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.