Neurophysiologic Biomarkers in Rett Syndrome

Description

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.

Conditions

Rett Syndrome, RTT, Rett Syndrome, Atypical

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Study Overview

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Study Details

Study overview

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.

Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome

Neurophysiologic Biomarkers in Rett Syndrome

Condition
Rett Syndrome
Intervention / Treatment

-

Contacts and Locations

Los Angeles

Children's Hospital of Los Angeles, Los Angeles, California, United States, 90027

Aurora

Children's Hospital Colorado, Aurora, Colorado, United States, 80045

Brookline

Boston Children's Hospital, Brookline, Massachusetts, United States, 02445

Philadelphia

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104

Nashville

Vanderbilt University Medical Center, Nashville, Tennessee, United States, 37232

Houston

Texas Children's Hospital, Houston, Texas, United States, 77030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.
  • 2. 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.
  • 3. 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).
  • 1. Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.
  • 2. Active medical conditions not typically found in RTT.
  • 1. Score below norms on the performance tests
  • 2. Have a known neurological disorder (excluding migraine)
  • 3. Being on neuroactive medications.

Ages Eligible for Study

1 Year to 18 Years

Sexes Eligible for Study

FEMALE

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Children's Hospital of Philadelphia,

Eric Marsh, MD, PhD, PRINCIPAL_INVESTIGATOR, Children's Hospital of Philadelphia

Jeffrey Neul, MD, PhD, PRINCIPAL_INVESTIGATOR, Vanderbilt University Medical Cener

Study Record Dates

2029-03-31