Neurophysiologic Biomarkers in Rett Syndrome

This observational study is looking for ways to better understand Rett Syndrome (RTT) by identifying specific markers in the brain. Researchers will use an electroencephalogram (EEG) and Evoked Potentials (AEP and VEP) to measure electrical activity in the brain. They want to see if these brain activity patterns change as RTT symptoms change, stay the same in stable individuals, and if they are linked to how severe RTT is. You may be able to join if you are a female between 1 and 18 years old with a diagnosis of Rett Syndrome or a specific genetic change (MECP2 variant). The study aims to measure Auditory Evoked Potential (AEP) and Visual Evoked Potential (VEP) latencies and amplitudes over 5 years. The current recruitment status is unclear.

Study design
This is an observational study with a planned enrollment of 202 participants. It will compare findings in individuals with Rett Syndrome to those in typically developing individuals.
What's involved
Participants will undergo up to eight standardized sessions involving EEG and Auditory and Visual Evoked Potentials (AEP and VEP). Clinical assessments will also be collected.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoints for Auditory Evoked Potential (AEP) and Visual Evoked Potential (VEP) are measured at 5 years.

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NCT05932589

Neurophysiologic Biomarkers in Rett Syndrome

Recruiting
Not specifiedAges 1–18Observational
Children's Hospital of Philadelphia
~202 participants
Updated 2025-10-20 on ClinicalTrials.gov
What's tested:EEG and Auditory and Visual Evoked Potentials (AEP and VEP)Clinical assessment

At a glance

Recruiting sites
6 of 6 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Auditory Evoked Potential (AEP) latency (ms)
Measured over 5 years
+4 more outcomes measured
Rett Syndrome
RTT
Rett Syndrome, Atypical
6 sites across 6 states
California1
Colorado1
Massachusetts1
Pennsylvania1
Tennessee1
Texas1
  • Eric Marsh, MD, PhD · PRINCIPAL_INVESTIGATOR · Children's Hospital of Philadelphia
  • Jeffrey Neul, MD, PhD · PRINCIPAL_INVESTIGATOR · Vanderbilt University Medical Cener

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  • Auditory Evoked Potential (AEP) latency (ms)5 years

    Calculated N1, P1 latencies in Cz and other electrodes \[posterior temporal region (T5/P3/T3) electrodes\], will be used for analysis.

  • Auditory Evoked Potential (AEP) amplitude5 years

    Amplitude of P1, P2 and N1 peaks (uV)

  • Visual Evoked Potential (VEP) latencies (ms)5 years

    The latencies of the N1, P1, and N2 components will be identified primarily at occipital electrodes with Oz will be the primary electrode of analysis. N1-P1 time will be analyzed.

  • Visual Evoked Potential (VEP) amplitude5 years

    N1-P1 amplitude at Oz and other occipital electrodes will be calculated.

  • EEG Analysis5 years

    EEG Root mean square (RMS) amplitude, Amplitude variability, 1/f constant, power bands in typical bands (Delta, theta, alpha, Beta, gamma) and ratios will be calculated.