Actively Recruiting
Neurophysiologic Biomarkers in Rett Syndrome
Led by Children's Hospital of Philadelphia · Updated on 2025-10-20
202
Participants Needed
6
Research Sites
285 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
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
Official Title
Neurophysiologic Biomarkers in Rett Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Female aged 3 to 18 years with clinical diagnosis of Rett Syndrome and a likely or known pathogenic variant in MECP2
- Female aged 1 to less than 5 years with MECP2 variant if regression has not yet occurred or within 6 months of last skill loss
- Female typically developing participants aged 1 to 18 years with no developmental or cognitive concerns as assessed by standardized tests
You will not qualify if you...
- Presence of a duplication in MECP2 or any other pathogenic mutation in another gene for Rett and Likely Rett groups
- Active medical conditions not typically found in Rett Syndrome for Rett and Likely Rett groups
- Score below norms on performance tests for Typically Developing group
- Known neurological disorder (excluding 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
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
Research Team
H
Holly Dubbs, MS. CGC
CONTACT
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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