Gene Therapy for Menkes Disease
Viral Gene Therapy for Menkes Disease
This project is developing a new gene therapy to help children with Menkes disease, a rare condition affecting copper levels in the body.
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 ID | NIH-11307645 on NIH RePORTER |
What this research studies
Menkes disease is a serious genetic condition that affects how the body uses copper, leading to severe neurological problems in infants. This project aims to develop a gene therapy that delivers a working copy of the ATP7A gene, which is faulty in Menkes disease, using a special virus called AAV9. The goal is to combine this gene therapy with an existing copper treatment to provide a more complete approach. Researchers are first making sure this new treatment is safe and effective in lab studies before it can be tested in people.
Who could benefit from this research
Good fit: Ideal candidates would be infants diagnosed with Menkes disease, likely within the 0-11 years old age range.
Not a fit: Patients with other neurological conditions not related to Menkes disease or ATP7A gene mutations would not receive direct benefit from this specific therapy.
Why it matters
Potential benefit: If successful, this gene therapy could offer a more effective treatment option for infants with Menkes disease, potentially improving survival and neurological development.
How similar studies have performed: While an existing copper treatment has shown some benefits, this project explores a novel gene therapy approach, building on preclinical studies that suggest a synergistic effect when combined with the existing treatment.
Where this research is happening
New York, United States
- 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 below.