Recruiting

Observational Study

Sponsor:

University of Rochester

Code:

NCT07569445

Conditions

Rett Syndrome

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Accepted

Interventions

Electroencephalogram (EEG) Recording

Study Details

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

Study ID

NCT07569445

Start date

Jul 31, 2025

Status verified date

Apr, 2026

Completion date

Aug, 2027

Anticipated

Primary completion date

Aug, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Accepted

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 Design

Enrollment

60 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

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.

Interventions

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.

Primary outcome measure

  • Mean Auditory Evoked Response Amplitude Measured by EEG [ Time Frame: Assessed at a single study visit (baseline, up to 1 day) ]
  • Mean Auditory Evoked Response Latency Measured by EEG [ Time Frame: Assessed at a single study visit (baseline, up to 1 day) ]

Central Contacts and Locations

Locations

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

Recruiting

Rochester, New York, United States, 14620

Contacts

Jamison Seabury, BS

315-663-4159jamison_seabury@urmc.rochester.edu

More Information

Sponsor

University of Rochester

Last update posted

May 6, 2026

Last verified

Apr, 2026

Keywords

  • Electroencephalography
  • EEG
  • Brain activity
  • Biomarkers

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by University of Rochester on 2026-05-06.