Exploring new treatment options for Rett Syndrome
Official title: A precision medicine approach to Rett Syndrome
Funded at Loyola University Chicago · NIH-10834181 · Data updated 2026-11-12
This study is looking at how Rett Syndrome affects the brain to find new ways to help improve symptoms, especially by focusing on a specific type of brain receptor that could lead to better treatments for girls and women with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Loyola University Chicago NIH-funded |
| Lab location | 1 site (Maywood, United States) |
| Project start | May 1, 2020 |
| Project end | April 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $338,285 |
| NIH project number | 5R01NS112171-05 |
| Project ID | NIH-10834181 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are females diagnosed with Rett Syndrome, particularly those with specific mutations in the MECP2 gene.
✕Less likely to help
Patients with Rett Syndrome who do not have the targeted mutations or who are male may not benefit from this research.
What this research studies
This research investigates the underlying mechanisms of Rett Syndrome (RTT), a neurodevelopmental disorder primarily affecting females. By analyzing brain samples from RTT patients, the study aims to identify potential drug targets that could lead to effective treatments. The researchers focus on the expression of muscarinic acetylcholine receptors, particularly the M1 subtype, which has shown promise in improving social and behavioral symptoms in preclinical models. The goal is to translate these findings into viable therapeutic strategies for RTT patients.
Why it matters
Potential benefit: If successful, this research could lead to new treatment options that significantly improve the quality of life for individuals with Rett Syndrome.
How similar studies have gone: Previous research has shown promise in targeting muscarinic acetylcholine receptors for neuropsychiatric diseases, suggesting a potential for success in this novel approach for RTT.
Where this research is happening
-
Loyola University Chicago
Maywood, United States Active
Researchers
- Principal investigator: Gogliotti, Rocco George — Loyola University Chicago
- Study coordinator: Gogliotti, Rocco George
Related research
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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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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
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.