Investigating copper toxicity and its effects on the brain in a mouse model of Wilson Disease
Official title: The Atp7b-/- mouse model of neurological copper toxicity and Wilson Disease
Funded at University of Alaska Anchorage · NIH-10574028 · Data updated 2026-11-12
This study is looking at Wilson Disease, a condition that causes too much copper to build up in the body, and it's testing new treatments, like zinc salts, to see if they can help reduce harmful effects on the brain and liver while being safer than current medications.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alaska Anchorage NIH-funded |
| Lab location | 1 site (Anchorage, United States) |
| Project start | September 20, 2022 |
| Project end | August 31, 2025 |
| Funding year | 2022 |
| Award (this year) | $414,812 |
| NIH project number | 1R21NS130270-01 |
| Project ID | NIH-10574028 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Wilson Disease, particularly those experiencing neurological symptoms.
✕Less likely to help
Patients without Wilson Disease or those whose symptoms are not related to copper metabolism may not benefit from this research.
What this research studies
This research focuses on Wilson Disease, a genetic disorder that leads to harmful copper buildup in the body, particularly affecting the brain and liver. Using a specific mouse model, researchers aim to understand how copper toxicity contributes to neurological symptoms such as movement disorders and psychiatric issues. The study explores alternative treatments, like zinc salts, which may be less harmful to neurological health compared to traditional copper-lowering drugs. By examining the mechanisms of copper toxicity, the research seeks to improve treatment strategies for patients with Wilson Disease.
Why it matters
Potential benefit: If successful, this research could lead to better treatment options for patients with Wilson Disease, potentially reducing neurological symptoms and improving quality of life.
How similar studies have gone: Previous research using rodent models has successfully identified mechanisms of copper toxicity, suggesting that this approach may yield valuable insights for Wilson Disease treatment.
Where this research is happening
-
University of Alaska Anchorage
Anchorage, United States Active
Researchers
- Principal investigator: Burkhead, Jason L — University of Alaska Anchorage
- Study coordinator: Burkhead, Jason L
Related research
Other NIH-funded projects on the same topics.
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PM577a: a one-time gene-editing therapy for Wilson disease
This study tests PM577a, a gene-editing treatment, to see if it is safe and may help people with Wilson disease who have a p.H1069Q ATP7B mutation.
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Best timing for 24-hour urine copper after a brief treatment break
This will see if a 24-hour urine copper test taken after a short, supervised pause in treatment reflects body copper levels in stable Wilson disease patients.
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Renal Involvement in Wilson's Disease
This study tests how Wilson's disease affects the kidneys and who might be at risk for kidney problems.
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Skin effects of D-penicillamine in people with Wilson disease
This project will use silicone molds and confocal imaging to see if D-penicillamine changes skin elasticity in people with Wilson disease compared with matched healthy volunteers.
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Evaluating LY-M003 Injection for Wilson Disease
This study is testing a new gene therapy called LY-M003 to see if it is safe and effective for people with Wilson Disease.
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Registry for Rare Diseases
This study is creating a detailed registry to collect information on rare diseases like amyloidosis and sarcoidosis to help improve how they are diagnosed and treated.
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.