Reactivate a gene 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-10930116 · Data updated 2026-11-12
This study is exploring a new way to help girls with Rett syndrome by trying to turn on a gene that’s important for brain function, using a special method to deliver it to the brain cells that need it, with hopes of improving their symptoms.
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 | 2024 |
| Award (this year) | $809,324 |
| NIH project number | 5R01MH134519-02 |
| Project ID | NIH-10930116 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are females diagnosed with Rett syndrome who have mutations in the MECP2 gene.
✕Less likely to help
Patients with Rett syndrome who do not have MECP2 mutations or those with other unrelated conditions may not benefit from this research.
What this research studies
This research investigates a potential treatment for Rett syndrome, a severe neurodevelopmental disorder primarily affecting girls. The approach focuses on reactivating the inactive X chromosome to restore the function of the MECP2 gene, which is crucial for normal brain function. By using a viral delivery method, the study aims to introduce the functional gene into neurons that currently lack it, potentially reversing the symptoms of the disorder. The research utilizes animal models that closely mimic human symptoms to evaluate the effectiveness of this gene therapy.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment option for individuals with Rett syndrome, potentially improving their neurological function and quality of life.
How similar studies have gone: Previous research has shown promising results in reversing Rett syndrome symptoms in animal models using similar gene therapy approaches, indicating potential for success in this study.
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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A study to find measurable brain signals that show whether treatments are helping children with Rett syndrome.
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MeCP2 reactivation on the inactive X to treat Rett syndrome
This project explores turning on the silent MECP2 gene on the inactive X chromosome to help people with Rett syndrome feel better.
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Studying how deep brain stimulation helps Rett syndrome in mice
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Molecular Pathways Behind Rett Syndrome in Humans
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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.