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Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome

28 avril 2026 mis à jour par: 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.

Aperçu de l'étude

Statut

Recrutement

Les conditions

Intervention / Traitement

Description détaillée

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.

Type d'étude

Observationnel

Inscription (Estimé)

60

Contacts et emplacements

Cette section fournit les coordonnées de ceux qui mènent l'étude et des informations sur le lieu où cette étude est menée.

Lieux d'étude

  • États-Unis
    • New York
      • Rochester, New York, États-Unis, 14620
        • Recrutement
        • Center for Advanced Brain Imaging and Neurophysiology, University of Rochester Medical Center
        • Contact:

Critères de participation

Les chercheurs recherchent des personnes qui correspondent à une certaine description, appelée critères d'éligibilité. Certains exemples de ces critères sont l'état de santé général d'une personne ou des traitements antérieurs.

Critère d'éligibilité

Âges éligibles pour étudier

  • Enfant
  • Adulte
  • Adulte plus âgé

Accepte les volontaires sains

Oui

Méthode d'échantillonnage

Échantillon non probabiliste

Population étudiée

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.

La 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

Plan d'étude

Cette section fournit des détails sur le plan d'étude, y compris la façon dont l'étude est conçue et ce que l'étude mesure.

Comment l'étude est-elle conçue ?

Détails de conception

Cohortes et interventions

Groupe / Cohorte
Intervention / Traitement
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.
Procédure: 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.
Procédure: 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.

Que mesure l'étude ?

Principaux critères de jugement

Mesure des résultats
Description de la mesure
Délai
Mean Auditory Evoked Response Amplitude Measured by EEG
Délai: 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
Délai: 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)

Mesures de résultats secondaires

Mesure des résultats
Description de la mesure
Délai
Total Score on the Rett Syndrome Severity Scale
Délai: 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
Délai: 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
Délai: 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
Délai: 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)
Délai: 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)

Collaborateurs et enquêteurs

C'est ici que vous trouverez les personnes et les organisations impliquées dans cette étude.

Parrainer

University of Rochester

Dates d'enregistrement des études

Ces dates suivent la progression des dossiers d'étude et des soumissions de résultats sommaires à ClinicalTrials.gov. Les dossiers d'étude et les résultats rapportés sont examinés par la Bibliothèque nationale de médecine (NLM) pour s'assurer qu'ils répondent à des normes de contrôle de qualité spécifiques avant d'être publiés sur le site Web public.

Dates principales de l'étude

Début de l'étude (Réel)

31 juillet 2025

Achèvement primaire (Estimé)

1 août 2027

Achèvement de l'étude (Estimé)

1 août 2027

Dates d'inscription aux études

Première soumission

9 avril 2026

Première soumission répondant aux critères de contrôle qualité

28 avril 2026

Première publication (Réel)

6 mai 2026

Mises à jour des dossiers d'étude

Dernière mise à jour publiée (Réel)

6 mai 2026

Dernière mise à jour soumise répondant aux critères de contrôle qualité

28 avril 2026

Dernière vérification

1 avril 2026

Plus d'information

Termes liés à cette étude

Mots clés

Termes MeSH pertinents supplémentaires

Autres numéros d'identification d'étude

  • STUDY00000920

Plan pour les données individuelles des participants (IPD)

Prévoyez-vous de partager les données individuelles des participants (DPI) ?

NON

Informations sur les médicaments et les dispositifs, documents d'étude

Étudie un produit pharmaceutique réglementé par la FDA américaine

Non

Étudie un produit d'appareil réglementé par la FDA américaine

Non

Ces informations ont été extraites directement du site Web clinicaltrials.gov sans aucune modification. Si vous avez des demandes de modification, de suppression ou de mise à jour des détails de votre étude, veuillez contacter register@clinicaltrials.gov. Dès qu'un changement est mis en œuvre sur clinicaltrials.gov, il sera également mis à jour automatiquement sur notre site Web .

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