MeCP2 reactivation on the inactive X to treat Rett syndrome
Official title: MeCP2 reactivation from the inactive X chromosome as treatment for Rett syndrome
Funded at Columbia University Health Sciences · NIH-11401010 · Data updated 2026-11-12
This project explores turning on the silent MECP2 gene on the inactive X chromosome to help people with Rett syndrome feel better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 15, 2023 |
| Project end | June 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $772,652 |
| NIH project number | 5R01MH134519-04 |
| Project ID | NIH-11401010 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults (21+ years) with Rett syndrome or MECP2-related conditions, with consideration of XCI status and eligibility for vector-based therapy in future trials.
✕Less likely to help
Individuals without RTT caused by MECP2 mutations or those with contraindications to AAV9 delivery may not benefit.
What this research studies
Rett syndrome is a serious brain disorder caused by mutations in MECP2, and many patients are girls who lack sufficient MeCP2 protein in neurons. The researchers are testing a gene-delivery approach using AAV9 to reactivate the healthy MECP2 gene from the inactive X, aiming to restore normal protein function in brain cells. The work involves preclinical models and adult subjects, with attention to safety and delivery effectiveness of the viral vector in targeting relevant brain regions. If successful, this strategy could address the root genetic cause of RTT and potentially improve neurological symptoms and lifespan.
Why it matters
Potential benefit: If successful, this approach could restore MeCP2 function in neurons and improve brain function and quality of life for people with Rett syndrome.
How similar studies have gone: Previous RTT studies showed that restoring MeCP2 in animal models can reverse symptoms, supporting potential human benefit with careful translation.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Liu, X. Shawn — Columbia University Health Sciences
- Study coordinator: Liu, X. Shawn
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Molecular Pathways Behind Rett Syndrome in Humans
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Understanding Rett Syndrome: How MECP2 Mutations Drive Brain Disease
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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.