Investigating heart disease mechanisms in patients with PGM1-CDG
Official title: Pathobiological mechanisms of cardiac disease in PGM1-CDG
Funded at University of Utah · NIH-10991821 · Data updated 2026-11-12
This study is looking at how a lack of a specific enzyme called PGM1 can cause heart problems, especially a condition called dilated cardiomyopathy, and it hopes to find new treatments that could help patients with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project start | December 1, 2023 |
| Project end | November 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $586,682 |
| NIH project number | 5R01HL167866-02 |
| Project ID | NIH-10991821 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with PGM1-CDG or related glycogen storage disorders who are experiencing cardiac symptoms.
✕Less likely to help
Patients without a diagnosis of PGM1-CDG or those not experiencing cardiac issues may not benefit from this research.
What this research studies
This research focuses on understanding how a genetic deficiency in the enzyme Phosphoglucomutase 1 (PGM1) leads to serious heart conditions, particularly dilated cardiomyopathy (DCM). By using specially designed mouse models, researchers will study the effects of this deficiency on heart function and structure. The study aims to explore potential treatments and the biological processes involved in cardiac disease related to PGM1-CDG. Patients may benefit from insights gained into their condition and potential new therapies.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients suffering from heart disease related to PGM1-CDG.
How similar studies have gone: Previous research has shown promising results in understanding cardiac conditions related to genetic disorders, but this specific approach is relatively novel.
Where this research is happening
-
University of Utah
Salt Lake City, United States Active
Researchers
- Principal investigator: Lai, Kent — University of Utah
- Study coordinator: Lai, Kent
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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.