RecruitingNCT05932589

Neurophysiologic Biomarkers in Rett Syndrome

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


Sponsor

Children's Hospital of Philadelphia

Enrollment

202 participants

Start Date

Oct 11, 2023

Study Type

OBSERVATIONAL

Conditions

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

Sex: FEMALEMin Age: 1 YearMax Age: 18 Years

Inclusion Criteria3

  • 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 Criteria7

  • 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.

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Interventions

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

Through up to eight standardized sessions, participants will undergo AEP and VEP, as well as resting state EEG.

OTHERClinical assessment

Established clinical measures for RTT will be collected for RTT participants


Locations(6)

Children's Hospital of Los Angeles

Los Angeles, California, United States

Children's Hospital Colorado

Aurora, Colorado, United States

Boston Children's Hospital

Brookline, Massachusetts, United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Texas Children's Hospital

Houston, Texas, United States

View Full Details on ClinicalTrials.gov

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NCT05932589


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