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Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome

28 april 2026 bijgewerkt door: John Foxe, University of Rochester
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.

Studie Overzicht

Toestand

Werving

Conditie

Interventie / Behandeling

Gedetailleerde beschrijving

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.

Studietype

Observationeel

Inschrijving (Geschat)

60

Contacten en locaties

In dit gedeelte vindt u de contactgegevens van degenen die het onderzoek uitvoeren en informatie over waar dit onderzoek wordt uitgevoerd.

Studie Locaties

  • Verenigde Staten
    • New York
      • Rochester, New York, Verenigde Staten, 14620
        • Werving
        • Center for Advanced Brain Imaging and Neurophysiology, University of Rochester Medical Center
        • Contact:

Deelname Criteria

Onderzoekers zoeken naar mensen die aan een bepaalde beschrijving voldoen, de zogenaamde geschiktheidscriteria. Enkele voorbeelden van deze criteria zijn iemands algemene gezondheidstoestand of eerdere behandelingen.

Geschiktheidscriteria

Leeftijden die in aanmerking komen voor studie

  • Kind
  • Volwassen
  • Oudere volwassene

Accepteert gezonde vrijwilligers

Ja

Bemonsteringsmethode

Niet-waarschijnlijkheidssteekproef

Studie Bevolking

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.

Beschrijving

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

Studie plan

Dit gedeelte bevat details van het studieplan, inclusief hoe de studie is opgezet en wat de studie meet.

Hoe is de studie opgezet?

Ontwerpdetails

Cohorten en interventies

Groep / Cohort
Interventie / Behandeling
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.

Wat meet het onderzoek?

Primaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Mean Auditory Evoked Response Amplitude Measured by EEG
Tijdsspanne: Assessed at a single study visit (baseline, up to 1 day)
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
Tijdsspanne: Assessed at a single study visit (baseline, up to 1 day)
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)

Secundaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Total Score on the Rett Syndrome Severity Scale
Tijdsspanne: Assessed at a single study visit (baseline, up to 1 day)
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
Tijdsspanne: Assessed at a single study visit (baseline, up to 1 day)
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
Tijdsspanne: Assessed at a single study visit (baseline, up to 1 day)
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
Tijdsspanne: Assessed at a single study visit (baseline, up to 1 day)
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)
Tijdsspanne: Assessed at a single study visit (baseline, up to 1 day)
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)

Medewerkers en onderzoekers

Hier vindt u mensen en organisaties die betrokken zijn bij dit onderzoek.

Sponsor

University of Rochester

Studie record data

Deze datums volgen de voortgang van het onderzoeksdossier en de samenvatting van de ingediende resultaten bij ClinicalTrials.gov. Studieverslagen en gerapporteerde resultaten worden beoordeeld door de National Library of Medicine (NLM) om er zeker van te zijn dat ze voldoen aan specifieke kwaliteitscontrolenormen voordat ze op de openbare website worden geplaatst.

Bestudeer belangrijke data

Studie start (Werkelijk)

31 juli 2025

Primaire voltooiing (Geschat)

1 augustus 2027

Studie voltooiing (Geschat)

1 augustus 2027

Studieregistratiedata

Eerst ingediend

9 april 2026

Eerst ingediend dat voldeed aan de QC-criteria

28 april 2026

Eerst geplaatst (Werkelijk)

6 mei 2026

Updates van studierecords

Laatste update geplaatst (Werkelijk)

6 mei 2026

Laatste update ingediend die voldeed aan QC-criteria

28 april 2026

Laatst geverifieerd

1 april 2026

Meer informatie

Termen gerelateerd aan deze studie

Trefwoorden

Aanvullende relevante MeSH-voorwaarden

Andere studie-ID-nummers

  • STUDY00000920

Plan Individuele Deelnemersgegevens (IPD)

Bent u van plan om gegevens van individuele deelnemers (IPD) te delen?

NEE

Informatie over medicijnen en apparaten, studiedocumenten

Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel

Nee

Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct

Nee

Deze informatie is zonder wijzigingen rechtstreeks van de website clinicaltrials.gov gehaald. Als u verzoeken heeft om uw onderzoeksgegevens te wijzigen, te verwijderen of bij te werken, neem dan contact op met register@clinicaltrials.gov. Zodra er een wijziging wordt doorgevoerd op clinicaltrials.gov, wordt deze ook automatisch bijgewerkt op onze website .

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