Neurophysiologic Biomarkers in Rett Syndrome
Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome
Children's Hospital of Philadelphia
202 participants
Oct 11, 2023
OBSERVATIONAL
Conditions
Summary
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.
Eligibility
Inclusion Criteria3
- Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.
- 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.
- 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).
Exclusion Criteria7
- Rett and Likely Rett Groups:
- Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.
- Active medical conditions not typically found in RTT.
- Typically Developing Group:
- Score below norms on the performance tests
- Have a known neurological disorder (excluding migraine)
- Being on neuroactive medications.
Interested in this trial?
Get notified about updates and connect with the research team.
Interventions
Through up to eight standardized sessions, participants will undergo AEP and VEP, as well as resting state EEG.
Established clinical measures for RTT will be collected for RTT participants
Locations(6)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT05932589