Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome

NCT07569445 | Recruiting

• 1 other identifier: STUDY00000920
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

This observational research study is designed to learn more about how the brain processes sound in individuals with Rett syndrome. Participants will complete a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. In addition, parents or caregivers will complete questionnaires and an interview about the participant's symptoms, communication abilities, daily functioning and overall health. The information collected from this study may help researchers better understand brain activity patterns and clinical features associated with Rett syndrome and support future research efforts.

Conditions

Rett Syndrome

Keywords

Electroencephalography; EEG; Brain activity; Biomarkers

Outcome Measures

Primary Outcomes (2)

• Mean Auditory Evoked Response Amplitude Measured by EEG

  Auditory evoked brain responses will be assessed using noninvasive electroencephalogram (EEG) recordings while participants listen to simple sounds through headphones. The mean amplitude of auditory evoked responses will be derived from EEG recordings to describe auditory processing in individuals with Rett syndrome.

  Assessed at a single study visit (baseline, up to 1 day)

• Mean Auditory Evoked Response Latency Measured by EEG

  Auditory evoked brain responses will be assessed using noninvasive electroencephalogram (EEG) recordings while participants listen to simple sounds through headphones. The mean latency of auditory evoked responses will be derived from EEG recordings to describe auditory processing in individuals with Rett syndrome.

  Assessed at a single study visit (baseline, up to 1 day)

Secondary Outcomes (5)

• Total Score on the Rett Syndrome Severity Scale

  Assessed at a single study visit (baseline, up to 1 day)

• Adaptive Behavior Composite Score on the Vineland Adaptive Behavior Scales

  Assessed at a single study visit (baseline, up to 1 day)

• Total Observer-Reported Communication Ability (ORCA) Score

  Assessed at a single study visit (baseline, up to 1 day)

• Total Score on the Rett Syndrome Behavior Questionnaire

  Assessed at a single study visit (baseline, up to 1 day)

• Mean Domain Scores on the Neurodevelopmental Disorders-Health Index (NDD-HI)

  Assessed at a single study visit (baseline, up to 1 day)

Study Arms (2)

Rett Syndrome Participants

Individuals with Rett syndrome who participate in this observational study will undergo a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. Parents or caregivers will complete questionnaires and interviews related to the participant's symptoms, communication abilities, daily functioning and overall health. A Rett syndrome severity scale may also be completed by a clinician or trained member of the research team.

Procedure: Electroencephalogram (EEG) Recording

Age- and sex-matched controls

Individuals who are age- and sex-matched to Rett syndrome participants in this study will be enrolled as controls. Control participants must have no medical history of genetic, neurological, or psychiatric disorders, no history of special education services, and no hearing impairment. Control participants in this study will undergo a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. Control participants (or their parent) will also complete a demographics questionnaire.

Procedure: Electroencephalogram (EEG) Recording

Interventions

Electroencephalogram (EEG) Recording PROCEDURE

Participants will undergo a noninvasive electroencephalogram (EEG) recording to measure brain activity in response to auditory stimuli. During the procedure, participants will listen to simple sounds through headphones while brain signals are recorded. No behavioral responses are required.

Age- and sex-matched controls; Rett Syndrome Participants

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population includes individuals diagnosed with Rett syndrome and age and sex-matched controls who are participating in an observational research study focused on brain activity and clinical characteristics. Rett syndrome participants will undergo a noninvasive EEG recording and their parent or caregiver will complete questionnaires and an interview related to symptoms, communication abilities, daily functioning and overall health. Control participants will also complete a noninvasive EEG recording and they or their parent will complete a demographics questionnaire.

You may qualify if:

• Have a clinical diagnosis of classic Rett syndrome
• Have a pathogenic MECP2 genetic variant confirmed via genetic testing
• Are past the clinical regression stage
• Are within the eligible age range for the study (2 years or older)
• Are able to tolerate the noninvasive EEG recording
• Parent or caregiver is willing and able to provide parental permission and complete questionnaires and interviews

You may not qualify if:

• Experiences hearing impairment or hearing loss
• Presence of medical conditions that would prevent safe participation in EEG recording
• Inability to tolerate EEG procedures
• Any condition that in the opinion of the investigator would interfere with study participation or data quality
• Controls
• Neurologically healthy individuals ages 2 years or older
• Are able to tolerate the noninvasive EEG recording
• Experiences hearing impairment or hearing loss
• Medical history of genetic, neurological, or psychiatric disorders
• History of special education services
• Inability to tolerate EEG procedures
• Any condition that in the opinion of the investigator would interfere with study participation or data quality

Sponsors & Collaborators

• University of Rochester: lead

Study Sites (1)

Center for Advanced Brain Imaging and Neurophysiology, University of Rochester Medical Center

Rochester, New York, 14620, United States

RECRUITING

MeSH Terms

Conditions

Rett Syndrome

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor - Department of Neuroscience (SMD)

Study Record Dates

• First Submitted: April 9, 2026
• First Posted: May 6, 2026
• Study Start: July 31, 2025
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2027
• Last Updated: May 6, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)