Developing a treatment for Rett Syndrome using gene therapy techniques
Advancing an XIST ASO candidate for the treatment of Rett Syndrome
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 ID | NIH-11060058 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are young girls diagnosed with Rett Syndrome, particularly those under the age of three.
Not a fit: 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.
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 performed: 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
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Lee, Jeannie T — Massachusetts General Hospital
- Study coordinator: Lee, Jeannie T
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.