Developing new treatments for spinal muscular atrophies
Translating Pathomechanisms into Treatment for Spinal Muscular Atrophies
This study is looking into spinal muscular atrophies (SMAs), which cause muscle weakness, to find better treatments for two types of SMA, and it’s for anyone affected by these conditions who wants to see advancements in care.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11143664 on NIH RePORTER |
What this research studies
This research focuses on spinal muscular atrophies (SMAs), which are genetic disorders affecting motor neurons and leading to muscle weakness. The team aims to advance therapies for two types of SMA: proximal SMA, caused by mutations in the SMN1 gene, and distal SMA, linked to mutations in the TRPV4 gene. By combining insights from human patients with experiments in animal models, the researchers will explore the underlying mechanisms of these diseases and identify new treatment strategies. The study will also assess the effectiveness of existing therapies and seek to improve their outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with proximal or distal spinal muscular atrophy.
Not a fit: Patients with other unrelated neuromuscular disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more effective treatments for spinal muscular atrophies, improving the quality of life for affected patients.
How similar studies have performed: Previous research has shown promising results in developing gene-targeting therapies for SMA, indicating a strong potential for success in this area.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Sumner, Charlotte Jane — Johns Hopkins University
- Study coordinator: Sumner, Charlotte Jane
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.