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Neurophysiologic Biomarkers in Rett Syndrome

Children's Hospital of Philadelphia · with National Institute of Neurological Disorders and Stroke (NINDS), Vanderbilt University Medical Center · NCT05932589

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 1–18 · Women only
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
202
US sites recruiting
6
Study start
October 11, 2023
Record last updated
October 20, 2025

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Being studied: EEG and Auditory and Visual Evoked Potentials (AEP and VEP); Clinical assessment

Conditions: Rett Syndrome; RTT; Rett Syndrome, Atypical

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

Inclusion Criteria

  • 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 Criteria

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.

Recruiting US locations

  • Children's Hospital of Los Angeles

    Los Angeles, CA 90027

    Site contact: Shefali Spurling Jeste, MD

  • Children's Hospital Colorado

    Aurora, CO 80045

    Site contact: Timothy Benke, MD, PhD

  • Boston Children's Hospital

    Brookline, MA 02445

    Site contact: April Levin, MD

  • Children's Hospital of Philadelphia

    Philadelphia, PA 19104

    Site contact: Holly Dubbs, MS, CGC · 215-590-1719 · dubbsh@chop.edu

  • Vanderbilt University Medical Center

    Nashville, TN 37232

    Site contact: Nicole Thompson · 615-343-4586 · Nicole.i.thompson@vumc.org

  • Texas Children's Hospital

    Houston, TX 77030

    Site contact: Bernhard Suter, MD

Study contacts (from the official record)

  • Holly Dubbs, MS. CGC · 215-590-1719 · dubbsh@chop.edu
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Neurophysiologic Biomarkers in Rett Syndrome (NCT05932589) | Bored Studies