Creating a lasting genetic treatment for spinal muscular atrophy
Development of in Vivo Base Editing as a Genetic Treatment for Spinal Muscular Atrophy
['FUNDING_CAREER'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11012259
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
| Phase | ['FUNDING_CAREER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11012259 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with spinal muscular atrophy, particularly those with mutations in the SMN1 gene.
Not a fit: Patients with spinal muscular atrophy who do not have mutations in the SMN1 gene may not benefit from this research.
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 performed: 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
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ALVES, CHRISTIANO — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: ALVES, CHRISTIANO
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 below.
Conditions: Aran-Duchenne disease