Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome

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.

Study Overview

• Status: Recruiting
• Conditions: Rett Syndrome
• Intervention / Treatment: Procedure: Electroencephalogram (EEG) Recording

Detailed Description

This study is an observational research project conducted under a broader IRB approved protocol that includes multiple neurodevelopmental and neurodegenerative conditions. The current ClinicalTrials.gov record describes only the Rett syndrome component of the research and reflects the procedures currently being performed for participants with Rett syndrome and age/sex-matched controls.

All participants in this study will undergo a noninvasive electroencephalogram (EEG) recording to measure brain responses to auditory stimuli. During the EEG, participants will listen to simple sounds through headphones while brain activity is recorded. No behavioral responses are required during the EEG recording.

Parents or caregivers of participants with Rett syndrome will complete questionnaires related to the participant's medical history, Rett syndrome symptoms, communication abilities, daily functioning and overall health. A structured interview may also be conducted with the parent/caregiver to assess adaptive behavior. In addition, a Rett syndrome severity scale may be completed by a clinician or trained member of the research team.

Control participants (or their parent/caregiver) will be asked to complete a demographics questionnaire.

This study does not involve assignment to a treatment or intervention, and does not involve the use of FDA regulated drugs or devices. Optional procedures described in the umbrella protocol such as Magnetic Resonance Imaging (MRI) studies are not part of the current Rett syndrome workflow and are not included in this study record.

The primary purpose of this research is to collect observational brain activity and clinical data to better characterize Rett syndrome and to support future scientific and clinical research.

• Study Type: Observational
• Enrollment (Estimated): 60

Contacts and Locations

Study Locations

• United States
  • New York
    • Rochester, New York, United States, 14620
      • Recruiting
      • Center for Advanced Brain Imaging and Neurophysiology, University of Rochester Medical Center
      • Contact: Jamison Seabury, BS; Phone Number: 315-663-4159; Email: jamison_seabury@urmc.rochester.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• 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.

Description

Rett Syndrome Participants:

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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

Inclusion Criteria:

• Neurologically healthy individuals ages 2 years or older
• Are able to tolerate the noninvasive EEG recording

Exclusion Criteria:

• 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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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; 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; 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; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Total Score on the Rett Syndrome Severity Scale	Overall disease severity will be assessed using the Rett Syndrome Severity Scale. The total severity score will be used to describe clinical severity in individuals with Rett syndrome. The scale may be completed by a clinician or trained member of the research team.	Assessed at a single study visit (baseline, up to 1 day)
Adaptive Behavior Composite Score on the Vineland Adaptive Behavior Scales	Adaptive behavior will be evaluated through a structured caregiver interview using the Vineland Adaptive Behavior Scales. The composite score will be used to describe daily living skills, communication and social functioning.	Assessed at a single study visit (baseline, up to 1 day)
Total Observer-Reported Communication Ability (ORCA) Score	Communication abilities will be assessed using a caregiver-reported questionnaire called the ORCA which evaluates expressive and receptive communication skills. ORCA total scores will be used to describe communication ability in individuals with Rett syndrome.	Assessed at a single study visit (baseline, up to 1 day)
Total Score on the Rett Syndrome Behavior Questionnaire	The Rett Syndrome Behavior Questionnaire is a caregiver-reported instrument assessing behavioral and clinical symptoms associated with Rett syndrome. The total questionnaire score will be used to describe symptom severity among participants enrolled in the study.	Assessed at a single study visit (baseline, up to 1 day)
Mean Domain Scores on the Neurodevelopmental Disorders-Health Index (NDD-HI)	Overall health status will be assessed using a caregiver-reported questionnaire called the Neurodevelopmental Disorders-Health Index (NDD-HI) which measures physical, social and emotional health domains specific to neurodevelopmental disorders. Mean domain scores and a total NDD-HI score will be used to describe health characteristics of participants with Rett syndrome.	Assessed at a single study visit (baseline, up to 1 day)

Collaborators and Investigators

• Sponsor: University of Rochester

Study record dates

Study Major Dates

• Study Start (Actual): July 31, 2025
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2027

Study Registration Dates

• First Submitted: April 9, 2026
• First Submitted That Met QC Criteria: April 28, 2026
• First Posted (Actual): May 6, 2026

Study Record Updates

• Last Update Posted (Actual): May 6, 2026
• Last Update Submitted That Met QC Criteria: April 28, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Biomarkers; EEG; Electroencephalography; Brain activity
• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, Inborn; Neurobehavioral Manifestations; Heredodegenerative Disorders, Nervous System; Intellectual Disability; Genetic Diseases, X-Linked; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; X-Linked Intellectual Disability; Rett Syndrome
• Other Study ID Numbers: STUDY00000920

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No