Developing a treatment for Rett Syndrome using gene therapy techniques
Official title: Advancing an XIST ASO candidate for the treatment of Rett Syndrome
Funded at Massachusetts General Hospital · NIH-11060058 · Data updated 2026-11-12
This study is looking for a new treatment for Rett Syndrome, a condition that mainly affects girls, by using a special approach to help turn on a gene that is important for brain development, with hopes of improving symptoms based on earlier promising results in animals.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | July 1, 2019 |
| Project end | February 28, 2029 |
| Funding year | 2025 |
| Award (this year) | $668,993 |
| NIH project number | 5R01MH118351-07 |
| Project ID | NIH-11060058 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are young girls diagnosed with Rett Syndrome, particularly those under the age of three.
✕Less likely to help
Patients with Rett Syndrome who are older than three years or those with other genetic mutations unrelated to MECP2 may not benefit from this research.
What this research studies
This research focuses on finding a treatment for Rett Syndrome, a severe neurodevelopmental disorder primarily affecting girls. The approach involves using antisense oligonucleotides to reactivate the normal gene responsible for neuronal development, which is typically silenced in patients. By targeting the XIST RNA, the study aims to restore the expression of the MECP2 gene, which is crucial for brain function. The research builds on previous findings in animal models that showed promise in reversing symptoms of the disorder.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment that restores normal brain function in girls with Rett Syndrome.
How similar studies have gone: Previous studies have shown success in animal models using similar gene therapy approaches, indicating potential for success in human applications.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Lee, Jeannie T — Massachusetts General Hospital
- Study coordinator: Lee, Jeannie T
Related research
Other NIH-funded projects on the same topics.
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Neurophysiological biomarkers to speed Rett syndrome therapies
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.
-
Glial signaling and breathing in Rett syndrome
Aims to understand how brain support cells (glia) in Rett syndrome affect breathing and whether IGF-1 related signals can improve it.
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Studying how deep brain stimulation helps Rett syndrome in mice
Researchers are testing how deep brain stimulation affects brain cells and memory in a mouse model of Rett syndrome to uncover mechanisms that could guide future therapies.
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Molecular Pathways Behind Rett Syndrome in Humans
A patient-focused look at how changes in the MECP2 gene affect brain function and development in Rett syndrome.
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.