Gene therapy to treat Menkes disease
Official title: Viral Gene Therapy for Menkes Disease
Funded at Columbia University Health Sciences · NIH-11167265 · Data updated 2026-11-12
This study is testing a new gene therapy for babies with Menkes disease to see if it’s safe and how well it works, with the hope of helping them live healthier lives and develop better.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 1, 2023 |
| Project end | June 30, 2027 |
| Funding year | 2023 |
| Award (this year) | $922,463 |
| NIH project number | 7U01NS129343-02 |
| Project ID | NIH-11167265 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are male infants diagnosed with Menkes disease or those at high risk due to family history.
✕Less likely to help
Patients with other forms of neurodegenerative disorders unrelated to copper metabolism may not benefit from this research.
What this research studies
This research investigates a novel gene therapy approach for Menkes disease, a severe genetic disorder affecting copper metabolism in infants. The study will evaluate the safety, tolerability, and appropriate dosing of a modified gene therapy using AAV9 to deliver a working copy of the ATP7A gene. If successful, this therapy aims to improve survival and neurodevelopmental outcomes for affected children. The research is based on promising preclinical results and aims to pave the way for a first-in-human clinical trial.
Why it matters
Potential benefit: If successful, this research could provide a new treatment option that significantly improves survival and quality of life for infants with Menkes disease.
How similar studies have gone: Previous studies have shown promising results with similar gene therapy approaches, indicating potential for success in this novel application.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Kaler, Stephen Gerard — Columbia University Health Sciences
- Study coordinator: Kaler, Stephen Gerard
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.