Neurophysiologic Biomarkers in Rett Syndrome

Last updated: October 17, 2025
Sponsor: Children's Hospital of Philadelphia
Overall Status: Active - Recruiting

Phase

N/A

Condition

Autism

Rett Syndrome

Treatment

Clinical assessment

EEG and Auditory and Visual Evoked Potentials (AEP and VEP)

EEG and Auditory and Visual Evoked Potentials (AEP and VEP)

Clinical Study ID

NCT05932589
22-020633
1R61NS130216-01
  • Ages 1-18
  • Female
  • Accepts Healthy Volunteers

Study 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 Criteria

Inclusion

Inclusion Criteria:

  1. Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with alikely pathogenic or known pathogenic variant in MECP2.

  2. Likely Rett Group: Females from 1 year to < 5 years of age with MECP2 variant ifregression 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) withno developmental or cognitive concerns as assessed using the Child/Adult BehavioralChecklist, Survey of Well-Being of Young Children (<5yo), or the Wide RangeAchievement Test-4 (>5 yo).

Exclusion

Exclusion Criteria:

Rett and Likely Rett Groups:

  1. Presence of a duplication in MECP2 or any other identified pathogenic mutation inanother 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.

Study Design

Total Participants: 202
Treatment Group(s): 3
Primary Treatment: Clinical assessment
Phase:
Study Start date:
October 11, 2023
Estimated Completion Date:
March 31, 2029

Study 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 correlated with each other and also to disease staging, overall clinical severity scores and through exploratory analyses with specific clinical features. The investigators will also be testing procedures to perform the recordings, electrode types and placement, and ways to reduce movement and artifact within the data to establish best practices.

Connect with a study center

  • Children's Hospital of Los Angeles

    Los Angeles, California 90027
    United States

    Site Not Available

  • Children's Hospital of Los Angeles

    Los Angeles 5368361, California 5332921 90027
    United States

    Active - Recruiting

  • Children's Hospital Colorado

    Aurora, Colorado 80045
    United States

    Site Not Available

  • Children's Hospital Colorado

    Aurora 5412347, Colorado 5417618 80045
    United States

    Active - Recruiting

  • Boston Children's Hospital

    Brookline, Massachusetts 02445
    United States

    Site Not Available

  • Boston Children's Hospital

    Brookline 4931482, Massachusetts 6254926 02445
    United States

    Active - Recruiting

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania 19104
    United States

    Site Not Available

  • Children's Hospital of Philadelphia

    Philadelphia 4560349, Pennsylvania 6254927 19104
    United States

    Active - Recruiting

  • Vanderbilt University Medical Center

    Nashville, Tennessee 37232
    United States

    Site Not Available

  • Vanderbilt University Medical Center

    Nashville 4644585, Tennessee 4662168 37232
    United States

    Active - Recruiting

  • Texas Children's Hospital

    Houston, Texas 77030
    United States

    Site Not Available

  • Texas Children's Hospital

    Houston 4699066, Texas 4736286 77030
    United States

    Active - Recruiting

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