Investigating muscle spindle function in congenital joint disorders
Official title: A stem cell-based model of the human muscle spindle for studying proprioceptive dysfunction in distal arthrogryposis syndromes
Funded at University of Washington · NIH-10664301 · Data updated 2026-11-12
This study is looking at how certain muscle fibers might cause movement problems in people with distal arthrogryposis syndromes, which are conditions that affect joint movement from birth, and it aims to find out how changes in a specific gene could impact these fibers and lead to the symptoms experienced by patients.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | September 19, 2023 |
| Project end | August 30, 2025 |
| Funding year | 2023 |
| Award (this year) | $427,130 |
| NIH project number | 1R21AR081445-01A1 |
| Project ID | NIH-10664301 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with distal arthrogryposis syndromes or related congenital disorders.
✕Less likely to help
Patients with other types of congenital disorders not related to distal arthrogryposis may not benefit from this research.
What this research studies
This research focuses on understanding how specific muscle fibers, known as intrafusal fibers, contribute to proprioceptive dysfunction in distal arthrogryposis syndromes, which are congenital disorders characterized by joint contractures. By using a stem cell-based model, the researchers aim to explore the role of these fibers in regulating muscle activity and how mutations in the MYH3 gene may affect their function. The study will involve examining the mechanical cues during embryonic development and how defects in muscle spindle function could lead to the symptoms observed in patients. This approach could provide insights into the underlying mechanisms of these syndromes and potential therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with distal arthrogryposis syndromes.
How similar studies have gone: While the specific approach of studying intrafusal fibers in relation to distal arthrogryposis is novel, similar research has shown promise in understanding muscle function and related disorders.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Smith, Alec Simon Tulloch — University of Washington
- Study coordinator: Smith, Alec Simon Tulloch
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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.