Correcting Genetic Errors for Spinal Muscular Atrophy
Genetic Suppression of SMN Mutations in Spinal Muscular Atrophy
['FUNDING_R01'] · OHIO STATE UNIVERSITY · NIH-11123252
This research looks for new ways to fix the genetic problem that causes Spinal Muscular Atrophy, a condition that weakens muscles.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | OHIO STATE UNIVERSITY (nih funded) |
| Locations | 1 site (Columbus, UNITED STATES) |
| Trial ID | NIH-11123252 on ClinicalTrials.gov |
What this research studies
Spinal Muscular Atrophy (SMA) happens when the body doesn't make enough of a protein called SMN, leading to muscle weakness. Our team is exploring how specific genetic changes in the SMN1 gene, found in some SMA patients, affect this protein's function. We've discovered that certain parts of the SMN protein can work together to restore its activity, and we've even identified another protein, SmF, that can correct the issues caused by a particular SMN mutation in lab settings. The next step is to test this SmF protein in mouse models of SMA to see if it can improve muscle function and extend life. This work aims to uncover new ways to address the root cause of SMA by fixing the genetic errors.
Who could benefit from this research
Good fit: This research is most relevant to patients with Spinal Muscular Atrophy caused by specific missense mutations in the SMN1 gene.
Not a fit: Patients whose Spinal Muscular Atrophy is caused by other genetic factors or who do not have SMN1 missense mutations may not directly benefit from this specific approach.
Why it matters
Potential benefit: If successful, this work could lead to new treatments that directly correct the genetic defects causing Spinal Muscular Atrophy.
How similar studies have performed: Previous lab and mouse studies have shown promising results in restoring SMN protein function, and this project builds on those findings to test a newly identified suppressor.
Where this research is happening
Columbus, UNITED STATES
- OHIO STATE UNIVERSITY — Columbus, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BURGHES, ARTHUR H. M. — OHIO STATE UNIVERSITY
- Study coordinator: BURGHES, ARTHUR H. M.
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