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โ† Trials
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Neurophysiologic Biomarkers in Rett Syndrome

Recruitingn/aAges 1 Year - 18 YearsFemaleChildren's Hospital of Philadelphia
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In plain words

What the trial is, and whether it could suit you

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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion 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). Exclusion Criteria: Rett and Likely Rett Groups: 1. Presence of a duplication in MECP2 or any other identified pathogenic variant in another gene with a neurodevelopmental phenotype. 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.
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What it tests

  • EEG and Auditory and Visual Evoked Potentials (AEP and VEP)
  • Clinical assessment
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Where

6 sites
Children's Hospital of Los Angeles
Los Angeles, United States
Children's Hospital Colorado
Aurora, United States
Boston Children's Hospital
Brookline, United States
Children's Hospital of Philadelphia
Philadelphia, United States
Vanderbilt University Medical Center
Nashville, United States
Texas Children's Hospital
Houston, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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