Neurophysiologic Biomarkers in Rett Syndrome
Eligible age
1–18 yrs
Accepts
Women
Locations
6 states
Healthy volunteers
Yes
See if you qualify for this study
Answer a few quick questions about your location and health. Takes about a minute.
About this study
The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are: * Do these biomarkers change during clinical changes in individuals with RTT? * Are biomarkers stable over time in clinically stable individuals? * Do these biomarkers correlate with severity of RTT? Participants will be asked to undergo an electroencephalogram (EEG) with measurements of Evoked Potentials (EP) to measure electrical activity in the brain. Researchers will compare findings in individuals with RTT to those in typically developing individuals to see if there are differences between the two groups.
Sponsor: Children's Hospital of Philadelphia
You may qualify if…
- ✓ 1. Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.
- ✓ 2. Likely Rett Group: Females from 1 year to \< 5 years of age with MECP2 variant if regression has not yet occurred or child is within 6 months of last skill loss.
- ✓ 3. Typically developing (TD) Group: Females age matched to RTT population (1-18) with no developmental or cognitive concerns as assessed using the Child/Adult Behavioral Checklist, Survey of Well-Being of Young Children (\<5yo), or the Wide Range Achievement Test-4 (\>5 yo).
You may not qualify if…
- ✕ Rett and Likely Rett Groups:
- ✕ 1. Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.
- ✕ 2. Active medical conditions not typically found in RTT.
- ✕ Typically Developing Group:
- ✕ 1. Score below norms on the performance tests
- ✕ 2. Have a known neurological disorder (excluding migraine)
- ✕ 3. Being on neuroactive medications.
Where it's recruiting
Los Angeles
Aurora
Brookline
Philadelphia
Nashville
Houston
Source: ClinicalTrials.gov · NCT05932589 · last updated 2025-10-20