NIH-funded research R21 grant

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.

More Wilson Disease research and trials

Quick facts

Grant typeR21 grant
Study typeNIH-funded research
Funding institutionUniversity of Alaska Anchorage
NIH-funded
Lab location1 site (Anchorage, United States)
Project startSeptember 20, 2022
Project endAugust 31, 2025
Funding year2022
Award (this year)$414,812
NIH project number1R21NS130270-01
Project IDNIH-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.

  • 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.

    Recruiting at 2 sites Phase 1/2 Prime Medicine, Inc. · New Haven, Connecticut and 3 other locations · NCT07748403

  • 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.

    Recruiting Yale University · New Haven, Connecticut · NCT07301216

  • 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.

    Recruiting Fondation Ophtalmologique Adolphe de Rothschild · Paris · NCT07075393

  • 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.

    Recruiting Centre Hospitalier Universitaire de Saint Etienne · Bron and 1 other locations · NCT06945081

  • 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.

    Recruiting Early Phase 1 First Affiliated Hospital of Zhejiang University · Hangzhou, Zhejiang · NCT06650319

  • 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.

    Recruiting Hospital Italiano de Buenos Aires · Buenos Aires, Buenos Aires · NCT06573723

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.