Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
202 participants
OBSERVATIONAL
2023-10-11
2029-03-31
Brief Summary
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* 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.
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Detailed Description
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Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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RTT Females
Females with Rett Syndrome
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.
Clinical assessment
Established clinical measures for RTT will be collected for RTT participants
Controls
Females with typical development
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.
Interventions
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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.
Clinical assessment
Established clinical measures for RTT will be collected for RTT participants
Eligibility Criteria
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Inclusion Criteria
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
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.
1 Year
18 Years
FEMALE
Yes
Sponsors
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National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Vanderbilt University Medical Center
OTHER
Children's Hospital of Philadelphia
OTHER
Responsible Party
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Principal Investigators
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Eric Marsh, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Children's Hospital of Philadelphia
Jeffrey Neul, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Vanderbilt University Medical Cener
Locations
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Children's Hospital of Los Angeles
Los Angeles, California, United States
Children's Hospital Colorado
Aurora, Colorado, United States
Boston Children's Hospital
Brookline, Massachusetts, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Vanderbilt University Medical Center
Nashville, Tennessee, United States
Texas Children's Hospital
Houston, Texas, United States
Countries
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Central Contacts
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Facility Contacts
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References
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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.
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.
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.
Other Identifiers
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22-020633
Identifier Type: -
Identifier Source: org_study_id
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