Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research.
Joni N Saby, Sarika U Peters, Timothy P L Roberts...
https://pubmed.ncbi.nlm.nih.gov/32547374Actively Recruiting
Age: 1Year - 18Years
FEMALE
Healthy Volunteers
ID05932589
Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome
Led by Children's Hospital of Philadelphia · Updated on 2025-10-20
202
Participants Needed
6
Research Sites
52 weeks
Total Duration
On this page
Sponsors
C
Children's Hospital of Philadelphia
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
This study focuses on identifying potential neurophysiological biomarkers in females with Rett Syndrome (RTT) to better understand abnormal brain activity and disease progression. The research compares females with RTT to typically developing females to explore whether these biomarkers change during clinical changes, remain stable during clinical stability, and correlate with RTT severity. The study aims to improve measures for future interventions and therapeutic development. Participants will undergo multiple standardized sessions involving electroencephalograms (EEG) and measurements of Auditory Evoked Potentials (AEP) and Visual Evoked Potentials (VEP) to assess electrical brain activity. Clinical assessments specific to RTT will also be collected for affected participants. The study includes females with RTT, females likely to develop RTT, and age-matched typically developing females for comparison. During the study, participants will have up to eight EEG and evoked potential sessions over five years. Researchers will analyze brain wave patterns and responses, correlate results with clinical severity and disease stages, and test best practices for recording and electrode placement. The primary outcomes include latency and amplitude measurements of auditory and visual evoked potentials, along with EEG analysis. Secondary outcomes focus on spectral analysis and spatial distribution of these signals. The study will monitor participants over time to understand biomarker changes and stability.
CONDITIONS
Brief Title
Neurophysiologic Biomarkers in Rett Syndrome
Who Can Participate
Age: 1Year - 18Years
FEMALE
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Females ages 3 to 18 years with a clinical diagnosis of Rett Syndrome and a known or likely pathogenic MECP2 gene variant
- Females ages 1 to less than 5 years with a MECP2 variant who have not yet experienced regression or are within 6 months of last skill loss
- Females aged 1 to 18 years with typical development and no developmental or cognitive concerns as assessed by standard behavioral tests
You will not qualify if you...
- Presence of MECP2 gene duplication or other pathogenic mutations in different genes for Rett and Likely Rett groups
- Active medical conditions not typically associated with Rett Syndrome for Rett and Likely Rett groups
- Scores below normal on performance tests for typically developing group
- Known neurological disorders (except migraine) for typically developing group
- Use of neuroactive medications for typically developing group
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Up to 5 years
Participants undergo electrophysiological assessments including EEG, Auditory Evoked Potentials (AEP), and Visual Evoked Potentials (VEP), as well as clinical assessments to identify neurophysiological biomarkers.
Up to 8 standardized sessions
Long-term Monitoring
Duration - Up to 5 years
Participants are observed over time to assess neurophysiological parameters and clinical outcomes related to Rett Syndrome and typical development.
Periodic follow-up sessions as scheduled
Trial Site Locations
Total: 6 locations
1
Children's Hospital of Los Angeles
Los Angeles, California, United States, 90027
Actively Recruiting
2
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
Actively Recruiting
3
Boston Children's Hospital
Brookline, Massachusetts, United States, 02445
Actively Recruiting
4
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
5
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232
Actively Recruiting
6
Texas Children's Hospital
Houston, Texas, United States, 77030
Actively Recruiting
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Research Team
H
Holly Dubbs, MS. CGC
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Multisite Study of Evoked Potentials in Rett Syndrome.
Joni N Saby, Timothy A Benke, Sarika U Peters...
https://pubmed.ncbi.nlm.nih.gov/33480039Visual evoked potentials detect cortical processing deficits in Rett syndrome.
Jocelyn J LeBlanc, Geneva DeGregorio, Eleonora Centofante...
https://pubmed.ncbi.nlm.nih.gov/26332183