Investigating the role of androgen receptors in a muscle disorder called SBMA
Study of AR transcriptional network in stem cell model of SBMA
This study is looking at how changes in a specific gene related to spinal and bulbar muscular atrophy (SBMA) affect muscle and nerve function, using stem cells to find new ways to help people with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-11039969 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the androgen receptor gene contribute to spinal and bulbar muscular atrophy (SBMA), a rare neuromuscular disorder. By using stem cell models, the study aims to explore the effects of these mutations on muscle and motor neuron function. Researchers will analyze how the mutated androgen receptor interacts with DNA and affects gene expression, which may lead to new therapeutic strategies. The goal is to provide insights that could improve treatment options for individuals affected by this condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with spinal and bulbar muscular atrophy, particularly those experiencing symptoms related to androgen receptor dysfunction.
Not a fit: Patients with other neuromuscular disorders not related to androgen receptor mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve muscle function and quality of life for patients with SBMA.
How similar studies have performed: Previous research has shown promising results in targeting muscle dysfunction in SBMA, indicating that this approach may lead to significant advancements in treatment.
Where this research is happening
Cleveland, United States
- Case Western Reserve University — Cleveland, United States (Active)
Researchers
- Principal investigator: Miranda, Helen C — Case Western Reserve University
- Study coordinator: Miranda, Helen C
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.