Understanding muscle degeneration in specific genetic disorders
Official title: Identifying tissue-specific interactions to bridge mechanisms underlying muscle degeneration in Congenital Disorders of Glycosylation and Dystroglycanopathies
Funded at University of Maine Orono · NIH-11068321 · Data updated 2026-11-12
This study is looking into how certain genetic conditions that affect muscles and nerves cause muscle weakness, and it aims to find out which parts of the body are most impacted and how this happens, so that we can develop better treatments for patients.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maine Orono NIH-funded |
| Lab location | 1 site (Orono, United States) |
| Project start | December 1, 2024 |
| Project end | November 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $34,007 |
| NIH project number | 1F31HD117499-01 |
| Project ID | NIH-11068321 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Congenital Disorders of Glycosylation or dystroglycanopathies.
✕Less likely to help
Patients with unrelated muscle disorders or those without a diagnosis of CDGs or dystroglycanopathies may not benefit from this research.
What this research studies
This research investigates the mechanisms behind muscle degeneration in Congenital Disorders of Glycosylation (CDGs) and dystroglycanopathies, which are complex genetic conditions affecting muscle and nerve function. The study aims to identify which tissues are most affected and how disruptions in glycosylation contribute to disease progression. By examining the roles of glycosylated proteins in muscle development and neuromuscular junctions, the research seeks to uncover critical insights that could lead to targeted therapies. Patients may benefit from a better understanding of their condition and potential new treatment strategies.
Why it matters
Potential benefit: If successful, this research could lead to targeted therapies that slow or prevent muscle degeneration in affected patients.
How similar studies have gone: While the specific approach of this research is novel, similar studies have shown promise in understanding muscle degeneration in other genetic disorders.
Where this research is happening
-
University of Maine Orono
Orono, United States Active
Researchers
- Principal investigator: Ignacz, Amanda Colleen — University of Maine Orono
- Study coordinator: Ignacz, Amanda Colleen
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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.