Neurophysiologic Biomarkers in Rett Syndrome
NCT05932589 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 202
Last updated 2025-10-20
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.
Conditions
- Rett Syndrome
- RTT
- Rett Syndrome, Atypical
Interventions
- OTHER
-
EEG 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.
- OTHER
-
Clinical assessment
Established clinical measures for RTT will be collected for RTT participants
Sponsors & Collaborators
-
National Institute of Neurological Disorders and Stroke (NINDS)
collaborator NIH -
Vanderbilt University Medical Center
collaborator OTHER -
Children's Hospital of Philadelphia
lead OTHER
Principal Investigators
-
Eric Marsh, MD, PhD · Children's Hospital of Philadelphia
-
Jeffrey Neul, MD, PhD · Vanderbilt University Medical Cener
Eligibility
- Min Age
- 1 Year
- Max Age
- 18 Years
- Sex
- FEMALE
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2023-10-11
- Primary Completion
- 2028-03-31
- Completion
- 2029-03-31
Countries
- United States
Study Locations
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