Investigating genetic changes in a neuromuscular disease affecting men.
Official title: Somatic instability of CAG repeats in spinal and bulbar muscular atrophy
Funded at Thomas Jefferson University · NIH-11119471 · Data updated 2026-11-12
This study is looking at spinal and bulbar muscular atrophy (SBMA) to understand how the genetic changes cause problems in the nerves and muscles, with the hope of finding new ways to help manage symptoms and slow down the disease for those affected.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | May 15, 2025 |
| Project end | April 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $429,000 |
| NIH project number | 1R21NS142744-01 |
| Project ID | NIH-11119471 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adult men diagnosed with spinal and bulbar muscular atrophy.
✕Less likely to help
Patients with other forms of neuromuscular diseases unrelated to androgen receptor mutations may not benefit from this research.
What this research studies
This research focuses on spinal and bulbar muscular atrophy (SBMA), a genetic neuromuscular disease caused by the expansion of a specific nucleotide sequence in the androgen receptor gene. The study utilizes advanced cell and mouse models to explore how these genetic changes lead to neuronal dysfunction and disease progression. By understanding the mechanisms behind SBMA, the research aims to identify potential therapeutic strategies that could alleviate symptoms or slow disease progression. Patients may benefit from insights gained into the disease's pathology and the development of targeted treatments.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve the quality of life for patients with spinal and bulbar muscular atrophy.
How similar studies have gone: Previous research on similar genetic mechanisms in other neurodegenerative diseases has shown promising results, indicating potential for success in this area as well.
Where this research is happening
-
Thomas Jefferson University
Philadelphia, United States Active
Researchers
- Principal investigator: Merry, Diane E — Thomas Jefferson University
- Study coordinator: Merry, Diane E
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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.