High-precision gene correction for MECP2-related Rett syndrome
High Fidelity Genome Editing for the Correction of MECP2 Mutations and Physiologic Regulation of Expression in Rett Syndrome
This project plans to use a high-precision, viral-based genome editing method to repair MECP2 gene changes in people with Rett syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Beckman Research Institute/city of Hope NIH-funded |
| Lab location | 1 site (Duarte, United States) |
| Project ID | NIH-11310866 on NIH RePORTER |
What this research studies
From a patient's perspective, researchers will use a nuclease-free, transcription-coupled AAVHSC genome editing approach designed to precisely correct most disease-causing changes in MECP2 exons 3 and 4 while minimizing unintended edits. The work focuses on achieving durable correction without the expression-control problems seen with some gene therapies and without relying on cell division. Scientists will test the technique in laboratory models and human-derived samples to measure precision, safety, and how well normal MECP2 levels are restored. The team aims to identify approaches that could be translated into clinical use while monitoring for toxicity and loss of effect over time.
Who could benefit from this research
Good fit: Ideal candidates would be people diagnosed with Rett syndrome caused by pathogenic MECP2 mutations, particularly those whose mutations lie in exons 3 or 4.
Not a fit: People without MECP2 mutations, with pathogenic changes outside the targeted exons, or with advanced irreversible neurological damage may not benefit from this approach.
Why it matters
Potential benefit: If successful, this approach could permanently fix the underlying MECP2 mutations and restore safer, more normal MECP2 expression with reduced toxicity compared with some existing viral gene therapies.
How similar studies have performed: Prior MECP2 gene therapy efforts have shown encouraging clinical improvements but raised concerns about dosing, expression control, and long-term durability, and this nuclease-free, precise-editing approach is a newer strategy.
Where this research is happening
Duarte, United States
- Beckman Research Institute/city of Hope — Duarte, United States (Active)
Researchers
- Principal investigator: Chatterjee, Saswati — Beckman Research Institute/city of Hope
- Study coordinator: Chatterjee, Saswati
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.