Understanding Rett Syndrome and MECP2 Duplication Syndrome
Comprehensive Deep Phenotyping and Multi-omics to Develop Clinical and Molecular Biomarkers for MeCP2-related Diseases
This project aims to find better ways to measure disease and treatment effects for people with Rett Syndrome and MECP2 duplication syndrome.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11162320 on NIH RePORTER |
What this research studies
Rett Syndrome and MECP2 duplication syndrome are serious brain development conditions caused by having too little or too much of a protein called MeCP2. Because the brain is very sensitive to the amount of MeCP2, treatments need to be very precise to avoid making symptoms worse. This project will look closely at the symptoms and biological changes in patients to find reliable markers. These markers will help doctors know if a treatment is working and if the dose is just right.
Who could benefit from this research
Good fit: Patients with Rett Syndrome or MECP2 duplication syndrome, especially those who might participate in future treatment trials, could be ideal candidates for this type of research.
Not a fit: Patients without Rett Syndrome or MECP2 duplication syndrome would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to more precise and safer treatments for Rett Syndrome and MECP2 duplication syndrome by providing clear ways to track treatment effectiveness.
How similar studies have performed: Early studies in animal models have shown promise with therapies that adjust MeCP2 levels, suggesting this approach has potential.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Pehlivan, Davut — Baylor College of Medicine
- Study coordinator: Pehlivan, Davut
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.