How partial dystrophin helps protect muscles
Molecular Mechanisms of Dystrophin Expression in Ameliorated Phenotypes
This work looks at how partially functional dystrophin proteins—made by the body or delivered by therapies—help people with Duchenne or Becker muscular dystrophy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project ID | NIH-11261623 on NIH RePORTER |
What this research studies
From a patient perspective, the team will compare muscles that naturally make shortened dystrophin (as in Becker) with muscles that receive therapeutic dystrophin to see what differences matter for strength and durability. Researchers will use patient muscle biopsies, cell models, and laboratory gene-delivery models to measure how much dystrophin is produced, where it localizes in muscle cells, and how well it prevents damage. The project will study different kinds of internally-deleted dystrophins and the timing of their expression to learn what amount and type are most protective. These findings aim to help interpret current therapies and guide future gene-replacement or retreatment strategies.
Who could benefit from this research
Good fit: People with Duchenne or Becker muscular dystrophy (and families considering biopsies or therapeutic trials) would be the most relevant candidates for sample donation or future participation.
Not a fit: People without dystrophin gene mutations or those unwilling or unable to provide muscle samples are unlikely to directly benefit from this project.
Why it matters
Potential benefit: If successful, this could help doctors predict how much functional improvement to expect from exon-skipping or gene therapies and inform treatment and retreatment choices.
How similar studies have performed: Some exon-skipping and emerging microdystrophin gene therapy efforts have shown that producing partial dystrophin can help some patients, but the precise links between protein type/amount/timing and clinical benefit remain unclear.
Where this research is happening
Columbus, United States
- Research Inst Nationwide Children's Hosp — Columbus, United States (Active)
Researchers
- Principal investigator: Flanigan, Kevin M — Research Inst Nationwide Children's Hosp
- Study coordinator: Flanigan, Kevin 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.