Rett Syndrome Clinical Trial
Official title:
Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome
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.
Status | Recruiting |
Enrollment | 202 |
Est. completion date | March 31, 2029 |
Est. primary completion date | March 31, 2028 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | Female |
Age group | 1 Year to 18 Years |
Eligibility | 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 mutation in another gene. 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. |
Country | Name | City | State |
---|---|---|---|
United States | Children's Hospital Colorado | Aurora | Colorado |
United States | Boston Children's Hospital | Brookline | Massachusetts |
United States | Texas Children's Hospital | Houston | Texas |
United States | Children's Hospital of Los Angeles | Los Angeles | California |
United States | Vanderbilt University Medical Center | Nashville | Tennessee |
United States | Children's Hospital of Philadelphia | Philadelphia | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
Children's Hospital of Philadelphia | National Institute of Neurological Disorders and Stroke (NINDS), Vanderbilt University Medical Center |
United States,
LeBlanc JJ, DeGregorio G, Centofante E, Vogel-Farley VK, Barnes K, Kaufmann WE, Fagiolini M, Nelson CA. Visual evoked potentials detect cortical processing deficits in Rett syndrome. Ann Neurol. 2015 Nov;78(5):775-86. doi: 10.1002/ana.24513. Epub 2015 Sep 18. — View Citation
Saby JN, Benke TA, Peters SU, Standridge SM, Matsuzaki J, Cutri-French C, Swanson LC, Lieberman DN, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Multisite Study of Evoked Potentials in Rett Syndrome. Ann Neurol. 2021 Apr;89(4):790-802. doi: 10.1002/ana.26029. Epub 2021 Feb 4. — View Citation
Saby JN, Peters SU, Roberts TPL, Nelson CA, Marsh ED. Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research. Front Integr Neurosci. 2020 May 28;14:30. doi: 10.3389/fnint.2020.00030. eCollection 2020. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Auditory Evoked Potential (AEP) latency (ms) | Calculated N1, P1 latencies in Cz and other electrodes [posterior temporal region (T5/P3/T3) electrodes], will be used for analysis. | 5 years | |
Primary | Auditory Evoked Potential (AEP) amplitude | Amplitude of P1, P2 and N1 peaks (uV) | 5 years | |
Primary | Visual Evoked Potential (VEP) latencies (ms) | The latencies of the N1, P1, and N2 components will be identified primarily at occipital electrodes with Oz will be the primary electrode of analysis. N1-P1 time will be analyzed. | 5 years | |
Primary | Visual Evoked Potential (VEP) amplitude | N1-P1 amplitude at Oz and other occipital electrodes will be calculated. | 5 years | |
Primary | EEG Analysis | EEG Root mean square (RMS) amplitude, Amplitude variability, 1/f constant, power bands in typical bands (Delta, theta, alpha, Beta, gamma) and ratios will be calculated. | 5 years | |
Secondary | AEP spectral analysis, dipole determination and spatial distribution | spectral analysis of the individual waveforms, dipole determination of N1 and P1 peaks and spatial distribution of peak values. | 5 years | |
Secondary | VEP spectral analysis, dipole determination and spatial distribution | spectral analysis of the individual waveforms, dipole determination of N1 and P1 peaks and spatial distribution of peak values. | 5 years |
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