Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome
Children's Hospital of Philadelphia
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.
Description
The main goal of the project is to identify potential biomarkers that can become measures for intervention and other translational studies and, at the same time, provide insight into abnormal synaptic activity and pathogenesis of RTT. Therefore, the proposed assessments will be performed with females with RTT and age matched typically developing females. These electrophysiological assessments will be compared to established clinical outcome measures from previous work in the NIH funded Rett and Rett related disorders natural history study. The neurophysiological parameters for RTT will be corr…
Eligibility
- Age range
- 1–18 years
- Sex
- Female
- Healthy volunteers
- Yes
Inclusion Criteria: 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…
Interventions
- OtherEEG and Auditory and Visual Evoked Potentials (AEP and VEP)
Through up to eight standardized sessions, participants will undergo AEP and VEP, as well as resting state EEG.
- OtherClinical assessment
Established clinical measures for RTT will be collected for RTT participants
Locations (6)
- Children's Hospital of Los AngelesLos Angeles, California
- Children's Hospital ColoradoAurora, Colorado
- Boston Children's HospitalBrookline, Massachusetts
- Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania
- Vanderbilt University Medical CenterNashville, Tennessee
- Texas Children's HospitalHouston, Texas