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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05932589
Other study ID # 22-020633
Secondary ID 1R61NS130216-01
Status Recruiting
Phase
First received
Last updated
Start date October 11, 2023
Est. completion date March 31, 2029

Study information

Verified date November 2023
Source Children's Hospital of Philadelphia
Contact Holly Dubbs, MS. CGC
Phone 215-590-1719
Email dubbsh@chop.edu
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


Description:

The main goal of the project is to identify potential biomarkers that can become measures for intervention and other translational studies and, at the same time, provide insight into abnormal synaptic activity and pathogenesis of RTT. Therefore, the proposed assessments will be performed with females with RTT and age matched typically developing females. These electrophysiological assessments will be compared to established clinical outcome measures from previous work in the NIH funded Rett and Rett related disorders natural history study. The neurophysiological parameters for RTT will be correlated with each other and also to disease staging, overall clinical severity scores and through exploratory analyses with specific clinical features. The investigators will also be testing procedures to perform the recordings, electrode types and placement, and ways to reduce movement and artifact within the data to establish best practices.


Recruitment information / eligibility

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.

Study Design


Related Conditions & MeSH terms


Intervention

Other:
EEG and Auditory and Visual Evoked Potentials (AEP and VEP)
Through up to seven standardized sessions, participants will undergo AEP and VEP, as well as resting state EEG.
Clinical assessment
Established clinical measures for RTT will be collected for RTT participants

Locations

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

Sponsors (3)

Lead Sponsor Collaborator
Children's Hospital of Philadelphia National Institute of Neurological Disorders and Stroke (NINDS), Vanderbilt University Medical Center

Country where clinical trial is conducted

United States, 

References & Publications (3)

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

Outcome

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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