Neurophysiologic Biomarkers in Rett Syndrome

Recruiting now

Conditions studied: Rett Syndrome, RTT, Rett Syndrome, Atypical

In brief

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.

Key facts

Study ID

NCT05932589

Run by

Children's Hospital of Philadelphia

People needed

202

Starts

2023-10-11

Expected to finish

2029-03-31

Last updated by the study team

2025-10-20

Who can join

Age: 1 and older, up to 18. Sex: female. Healthy volunteers: accepted.

You may qualify if…

• 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).

You may not qualify if…

• 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.

Where it is running

• Children's Hospital of Los Angeles — Los Angeles, California, United States (enrolling)
• Children's Hospital Colorado — Aurora, Colorado, United States (enrolling)
• Boston Children's Hospital — Brookline, Massachusetts, United States (enrolling)
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (enrolling)
• Vanderbilt University Medical Center — Nashville, Tennessee, United States (enrolling)
• Texas Children's Hospital — Houston, Texas, United States (enrolling)

Full record on ClinicalTrials.gov

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