Neurophysiologic Biomarkers in Rett Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age1-18
SponsorChildren's Hospital of Philadelphia
About this trial
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 criteria
Qualifiers
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).
Disqualifiers
Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.
Active medical conditions not typically found in RTT.
Score below norms on the performance tests
Have a known neurological disorder (excluding migraine)
Trial design
Treatments tested in this trial
- EEG and Auditory and Visual Evoked Potentials (AEP and VEP)
- Clinical assessment
Treatment groups
202 Participants
are divided into 2 treatment groupsSponsors and collaborators
Children's Hospital of Philadelphia
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Vanderbilt University Medical Center
Collaborator
Source ClinicalTrials.gov