Studying Brain Activity Markers to Improve Treatment in Girls with Rett Syndrome Ages 1 to 18

What this Trial Is About

This study focuses on identifying potential neurophysiological biomarkers in females with Rett Syndrome RTT to better understand abnormal brain activity and disease progression. The research compares females with RTT to typically developing females to explore whether these biomarkers change during clinical changes, remain stable during clinical stability, and correlate with RTT severity. The study aims to improve measures for future interventions and therapeutic development. Participants will undergo multiple standardized sessions involving electroencephalograms EEG and measurements of Auditory Evoked Potentials AEP and Visual Evoked Potentials VEP to assess electrical brain activity. Clinical assessments specific to RTT will also be collected for affected participants. The study includes females with RTT, females likely to develop RTT, and age-matched typically developing females for comparison. During the study, participants will have up to eight EEG and evoked potential sessions over five years. Researchers will analyze brain wave patterns and responses, correlate results with clinical severity and disease stages, and test best practices for recording and electrode placement. The primary outcomes include latency and amplitude measurements of auditory and visual evoked potentials, along with EEG analysis. Secondary outcomes focus on spectral analysis and spatial distribution of these signals. The study will monitor participants over time to understand biomarker changes and stability.

Neurophysiologic Biomarkers in Rett Syndrome