Understanding how to keep glycogen soluble in the body
Uncovering cellular mechanisms to keep glycogen water-soluble
['FUNDING_R01'] · UT SOUTHWESTERN MEDICAL CENTER · NIH-11083121
This study is looking into how to keep glycogen, a type of sugar stored in the body, from becoming hard and causing problems in people with certain rare genetic diseases, using mice to learn more about how changes in glycogen can help reduce harmful buildup in important organs like the liver, muscles, heart, and brain.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UT SOUTHWESTERN MEDICAL CENTER (nih funded) |
| Locations | 1 site (DALLAS, UNITED STATES) |
| Trial ID | NIH-11083121 on ClinicalTrials.gov |
What this research studies
This research investigates the mechanisms that prevent glycogen from becoming insoluble, which is a problem in over 20 rare genetic diseases. By using mouse models, the study aims to explore how glycogen phosphorylation and branching affect its solubility and how genetic modifications can reduce harmful glycogen deposits in tissues like the liver, muscle, heart, and brain. The research employs both in vitro and in vivo methods to analyze these cellular processes and their implications for health and disease.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with rare genetic diseases that lead to glycogen accumulation, such as Lafora disease.
Not a fit: Patients with conditions unrelated to glycogen metabolism or those who do not have genetic diseases associated with glycogen accumulation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for rare genetic diseases caused by glycogen accumulation.
How similar studies have performed: While the specific approach of this research is novel, previous studies have shown that understanding glycogen metabolism can lead to significant advancements in treating related conditions.
Where this research is happening
DALLAS, UNITED STATES
- UT SOUTHWESTERN MEDICAL CENTER — DALLAS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: NITSCHKE, FELIX — UT SOUTHWESTERN MEDICAL CENTER
- Study coordinator: NITSCHKE, FELIX
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.