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Un estudio de historia natural del síndrome de Angelman (GLOW-AS)

19 de agosto de 2026 actualizado por: Christopher Keary, Massachusetts General Hospital

Un Estudio de Historia Natural Longitudinal de Adultos y Niños con Síndrome de Angelman

El objetivo de este estudio observacional es conocer la progresión natural del síndrome de Angelman (SA) en niños y adultos con un diagnóstico genético confirmado de SA. Las principales preguntas que pretende responder son:

  • ¿Cómo cambian las habilidades del desarrollo, como la comunicación, las habilidades motoras y los comportamientos adaptativos, durante un período de 1 año en personas con SA?
  • ¿Existen patrones específicos en la actividad cerebral o el sueño que estén asociados con cambios en los síntomas del SA a lo largo del tiempo?

Los participantes:

  • Visitarán el sitio del estudio 5 veces en 1 año (aproximadamente cada 3 meses) para evaluaciones.
  • Completarán pruebas y cuestionarios sobre desarrollo, comportamientos y sueño con la ayuda de sus cuidadores.
  • Se someterán a electroencefalogramas (EEG) para medir la actividad cerebral y usarán un dispositivo de monitoreo del sueño en casa (para recopilar datos de actigrafía).

Descripción general del estudio

Estado

Reclutamiento

Condiciones

Descripción detallada

  • Estudio longitudinal de historia natural de 40 individuos con AS, enriquecido para una población adolescente.
  • Busca establecer datos normativos para informar el diseño e interpretación futuros de ensayos clínicos para AS y apoyar el desarrollo de herramientas de diagnóstico más precisas e intervenciones terapéuticas dirigidas para AS.
  • Seguimiento del comportamiento adaptativo, comunicación, comportamientos desafiantes, salud general, gravedad general de la enfermedad y condiciones comórbidas comunes (incluyendo epilepsia y trastornos del sueño) mediante evaluaciones estandarizadas.
  • Se analizarán datos de biomarcadores recogidos mediante EEG y registros de actigrafía para evaluar cambios relacionados con la edad en los resultados clínicos y medidas neurofisiológicas.
  • Los participantes asistirán hasta 5 visitas de estudio presenciales a lo largo de 12 meses: Semana 0, Semana 13, Semana 26, Semana 39, Semana 52.

Tipo de estudio

De observación

Inscripción (Estimado)

40

Contactos y Ubicaciones

Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.

Estudio Contacto

  • Nombre: Leena Phan
  • Número de teléfono: 781-860-1711
  • Correo electrónico: MGHGLOW-AS@mgb.org

Copia de seguridad de contactos de estudio

  • Nombre: Riley Shubb
  • Número de teléfono: 781-860-1711
  • Correo electrónico: MGHGLOW-AS@mgb.org

Ubicaciones de estudio

  • Estados Unidos
    • Massachusetts
      • Lexington, Massachusetts, Estados Unidos, 02421
        • Reclutamiento
        • MGH Lurie Center for Autism
        • Investigador principal:
          • Christopher J Keary, MD
        • Sub-Investigador:
          • Ronald L Thibert, DO, MSPH
        • Contacto:
        • Contacto:

Criterios de participación

Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.

Criterio de elegibilidad

Edades elegibles para estudiar

  • Niño
  • Adulto
  • Adulto Mayor

Acepta Voluntarios Saludables

No

Método de muestreo

Muestra no probabilística

Población de estudio

Individuos de al menos 1 año de edad con un diagnóstico de AS confirmado genéticamente.

Descripción

Criterios de inclusión:

  • El participante tiene un diagnóstico clínico primario de síndrome de Angelman con variación(es) genética(s) documentada(s) que afectan la función del gen UBE3A dentro del locus humano 15q11.2-q13.3. Se permiten condiciones concurrentes (por ejemplo, trastorno del espectro autista, parálisis cerebral, discapacidad intelectual); sin embargo, el síndrome de Angelman debe ser el diagnóstico clínico primario.
  • El participante es de sexo masculino o femenino (sexo asignado al nacer) y tiene ≥1 año de edad en la visita inicial del estudio.
  • El participante tiene un compañero de estudio que cumple con los criterios de compañero de estudio que se detallan a continuación.
  • El participante, si no puede otorgar consentimiento informado, tiene un representante adecuado que tiene al menos 18 años de edad y está dispuesto y es capaz de otorgar consentimiento informado en nombre del participante de acuerdo con las pautas actuales del Consejo Internacional de Armonización (ICH) y las regulaciones institucionales aplicables.

Los individuos deben cumplir los siguientes criterios para ser inscritos como compañeros de estudio:

  • El compañero de estudio es un padre o cuidador principal que tiene al menos 18 años de edad.
  • El compañero de estudio tiene contacto constante con el participante y, en opinión del investigador, tiene suficiente conocimiento sobre la condición actual del participante para proporcionar información precisa y actualizada.
  • El compañero de estudio tiene suficiente dominio del idioma inglés para completar las evaluaciones del compañero de estudio.
  • El compañero de estudio está dispuesto y es capaz de otorgar consentimiento informado por su cuenta de acuerdo con las pautas ICH y las regulaciones institucionales aplicables.
  • El compañero de estudio es, en opinión del investigador, confiable y competente; está dispuesto y es capaz de acompañar al participante a todas las visitas del estudio y cumplir con los procedimientos del estudio; es accesible por teléfono o correo electrónico según sea necesario; y tiene suficiente conocimiento sobre la(s) condición(es) actual(es) del participante para proporcionar información precisa y actualizada sobre la salud y el bienestar del participante.

Criterios de exclusión:

  • El participante tiene al menos una anomalía genética adicional conocida fuera del locus humano 15q11.2-q13.3 que causa una discapacidad del desarrollo probable o conocida.
  • Al menos un tratamiento estándar de atención (medicamento o terapia complementaria) utilizado por el participante fue modificado durante los 28 días (4 semanas) previos a la primera visita del estudio. Los tratamientos incluyen, entre otros, dosis de medicamentos antiepilépticos, medicamentos para el manejo conductual, medicamentos para el sueño, gabapentina, cannabidiol, dietas especiales, suplementos, terapia del habla, terapia ocupacional, análisis conductual aplicado (ABA), intervenciones psicosociales, terapia física o soporte nutricional.
  • El participante tiene epilepsia inestable, definida como haber tenido una visita al departamento de emergencias o una hospitalización por problemas relacionados con convulsiones dentro de los 28 días (4 semanas) anteriores a la visita inicial del estudio.
  • El participante tiene potencial reproductivo y está embarazada, amamantando o no utiliza un método anticonceptivo adecuado; la abstinencia es aceptable.
  • El participante tiene un historial clínicamente relevante de malignidad; resultados de pruebas anormales clínicamente significativos; enfermedad cardiovascular, hematológica, hepática, muscular, neurológica o renal clínicamente significativa; o ha experimentado otros eventos clínicos que, en opinión del investigador, hacen que la participación no sea adecuada.
  • El participante tiene un historial de por vida de tratamiento con cualquier terapia basada en células o genes, incluidos oligonucleótidos antisentido o terapias de edición génica.
  • El participante ha recibido cualquier terapia en investigación que no sea una terapia basada en células o genes dentro de los 28 días o 5 vidas medias (lo que sea más largo) anteriores a la visita inicial del estudio.
  • El participante está actualmente inscrito o planea inscribirse en un estudio de intervención que involucre un agente o dispositivo en investigación durante el período de observación planificado.
  • El participante tiene una contraindicación conocida para la electroencefalografía, la actigrafía o cualquier otro procedimiento del estudio descrito en el cronograma de evaluaciones.
  • El participante o el compañero de estudio es, en opinión del investigador, inadecuado para participar de cualquier otra manera, incluida la incapacidad de cumplir con los requisitos del estudio.

Plan de estudios

Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.

¿Cómo está diseñado el estudio?

Detalles de diseño

Cohortes e Intervenciones

Grupo / Cohorte
Participantes de 1 a 17 años (inclusive)
  • Cohorte 1: Participantes con al menos 1 año de edad y menos de 18 años en el momento de la inscripción con AS confirmada genéticamente.
  • Esta cohorte sirve como el grupo amplio para evaluar la historia natural del AS durante la infancia y la adolescencia.
Participantes de 1 a 12 años (inclusive)
  • Cohorte 2: Participantes de al menos 1 año de edad y menores de 13 años en el momento de la inscripción con AS confirmada genéticamente.
  • Un subconjunto de la Cohorte 1, específicamente centrado en preadolescentes.
  • Esta cohorte tiene como objetivo capturar hitos del desarrollo y cambios durante un período crítico de crecimiento donde las intervenciones terapéuticas potenciales pueden tener el impacto más significativo.
  • Los participantes de 1 a 12 años serán asignados primero a la Cohorte 2 hasta que se alcance su capacidad. Una vez que la Cohorte 2 esté completa, los participantes de 1 a 12 años serán inscritos solo en la Cohorte 1.
Participantes de 18 años o más
  • Cohorte 3: Participantes con al menos 18 años de edad.
  • Esta cohorte se limita a un máximo de 5 participantes para explorar la historia natural de la EA en adultos, aunque no es el objetivo principal de este estudio.

¿Qué mide el estudio?

Medidas de resultado primarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Cognitive subscale assesses cognitive development in children. Growth score equivalents are derived from developmental growth scale values (GSVs) that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate greater cognitive development.
Week 0, Week 26, Week 52
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Receptive Communication Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Receptive Communication subscale assesses receptive language skills. Growth score equivalents are derived from developmental GSVs that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate more advanced receptive communication abilities.
Week 0, Week 26, Week 52
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Expressive Communication Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Expressive Communication subscale assesses expressive language skills. Growth score equivalents are derived from developmental GSVs that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate more developed expressive communication abilities.
Week 0, Week 26, Week 52
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Fine Motor Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Fine Motor subscale assesses fine motor skill development. Growth score equivalents are derived from developmental GSVs that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate more developed fine motor skills.
Week 0, Week 26, Week 52
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Gross Motor Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Gross Motor subscale assesses gross motor skill development. Growth score equivalents are derived from developmental GSVs that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate more developed gross motor skills.
Week 0, Week 26, Week 52

Medidas de resultado secundarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Cognitive subscale age-equivalent score represents the age in months at which the participant's raw score is the median score for typically developing children. Higher age-equivalent scores indicate more advanced cognitive development.
Week 0, Week 26, Week 52
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Expressive Communication Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Expressive Communication subscale age-equivalent score represents the age in months at which the participant's raw score is the median score for typically developing children. Higher age-equivalent scores indicate more advanced expressive communication abilities.
Week 0, Week 26, Week 52
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Receptive Communication Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Receptive Communication subscale age-equivalent score represents the age in months at which the participant's raw score is the median score for typically developing children. Higher age-equivalent scores indicate more advanced receptive communication abilities.
Week 0, Week 26, Week 52
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Fine Motor Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Fine Motor subscale age-equivalent score represents the age in months at which the participant's raw score is the median score for typically developing children. Higher age-equivalent scores indicate more advanced fine motor development.
Week 0, Week 26, Week 52
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Gross Motor Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 26, Week 52
The Bayley-4 Gross Motor subscale age-equivalent score represents the age in months at which the participant's raw score is the median score for typically developing children. Higher age-equivalent scores indicate more advanced gross motor development.
Week 0, Week 26, Week 52
Change from Baseline in Symptoms of Angelman Syndrome-Clinical Global Impressions Scale of Severity (SAS-CGI-S) Global Severity Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The SAS-CGI-S is a clinician-rated assessment of global symptom severity in Angelman syndrome. Scores range from 1 (normal, not at all ill) to 7 (among the most extremely ill patients), with higher scores indicating greater global symptom severity.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Aberrant Behavior Checklist-Community (ABC-C) Hyperactivity/Noncompliance Subscale Score (ABC-H) at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The ABC-C Hyperactivity subscale assesses hyperactive and non-compliant behaviors. Scores range from 0 to 48, with higher scores indicating more severe hyperactivity symptoms.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Aberrant Behavior Checklist-Community (ABC-C) Irritability Subscale Score (ABC-I) at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The ABC-C Irritability subscale assesses irritability, aggression, self-injury, and negative emotional states. Scores range from 0 to 45, with higher scores indicating more severe irritability symptoms.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Caregiver-Reported Angelman Syndrome Scale for Impact (CASS-I) Overall AS Symptoms Rating at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The CASS-I is a caregiver-reported assessment of overall symptom severity and impact in Angelman syndrome. The scale provides a global rating of AS symptoms from the caregiver's perspective, with higher ratings indicating greater symptom severity and impact.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Children's Sleep Habits Questionnaire (CSHQ) Total Sleep Disturbance Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The CSHQ is a parent-report questionnaire assessing sleep problems in children. The total score ranges from 33 to 99, with higher scores indicating greater sleep disturbance. A total score of 41 or higher indicates clinically significant sleep problems.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Children's Sleep Habits Questionnaire (CSHQ) Sleep Duration Subscale Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The CSHQ Sleep Duration subscale assesses the adequacy of sleep duration. Higher scores indicate shorter or insufficient sleep duration.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Children's Sleep Habits Questionnaire (CSHQ) Night Wakings Subscale Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The CSHQ Night Wakings subscale assesses the frequency and severity of nighttime awakenings. Higher scores indicate more frequent or problematic night wakings.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Observer-Reported Communication Ability (ORCA) Overall Communication T-Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The ORCA is an observer-reported measure of communication abilities in individuals with Angelman syndrome. T-scores are standardized scores with a mean of 50 and standard deviation of 10. Higher t-scores indicate greater proficiency in overall communication abilities.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Observer-Reported Communication Ability (ORCA) Expressive Communication T-Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The ORCA Expressive Communication subscale assesses expressive language abilities. T-scores are standardized scores with a mean of 50 and standard deviation of 10. Higher t-scores indicate greater proficiency in expressive communication.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Observer-Reported Communication Ability (ORCA) Receptive Communication T-Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The ORCA Receptive Communication subscale assesses receptive language abilities. T-scores are standardized scores with a mean of 50 and standard deviation of 10. Higher t-scores indicate greater proficiency in receptive communication.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Observer-Reported Communication Ability (ORCA) Pragmatic Communication T-Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The ORCA Pragmatic Communication subscale assesses social and contextual use of communication. T-scores are standardized scores with a mean of 50 and standard deviation of 10. Higher t-scores indicate greater proficiency in pragmatic communication.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Receptive Communication Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Receptive Communication subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced receptive communication skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Receptive Communication Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Receptive Communication GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in receptive communication.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Expressive Communication Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Expressive Communication subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced expressive communication skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Expressive Communication Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Expressive Communication subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in expressive communication.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Personal Daily Living Skills Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Personal Daily Living Skills subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced personal daily living skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Personal Daily Living Skills Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Personal Daily Living Skills subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in personal daily living skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Domestic Daily Living Skills Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Domestic Daily Living Skills subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced domestic daily living skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Domestic Daily Living Skills Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Domestic Daily Living Skills subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in domestic daily living skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Community Daily Living Skills Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Community Daily Living Skills subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced community daily living skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Community Daily Living Skills Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Community Daily Living Skills subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in community daily living skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Interpersonal Relationships Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Interpersonal Relationships subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced interpersonal relationship skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Interpersonal Relationships Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Interpersonal Relationships subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in interpersonal relationships.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Play and Leisure Time Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Play and Leisure Time subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced play and leisure skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Play and Leisure Time Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Play and Leisure Time subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in play and leisure skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Coping Skills Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Coping Skills subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced coping skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Coping Skills Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Coping Skills subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in coping skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Gross Motor Skills Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Gross Motor Skills subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced gross motor skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Gross Motor Skills Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Gross Motor Skills subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress of gross motor skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Fine Motor Skills Age-Equivalent Score at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Fine Motor Skills subdomain age-equivalent score represents the age in years and months at which the participant's score is typical for an average individual. Higher age-equivalent scores indicate more advanced fine motor skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Fine Motor Skills Growth Score Equivalent at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
The Vineland-3 Fine Motor Skills subdomain GSV provides an equal-interval scale for measuring developmental change over time. Higher growth score equivalents indicate greater developmental progress in fine motor skills.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Frequency of Reported Seizure Events at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Seizure frequency is assessed through caregiver-reported seizure diaries documenting the number and type of seizure events over each measurement period. Seizure counts are analyzed as rates to account for variability in the duration of time covered by seizure diaries. Lower seizure rates indicate decreased seizure frequency.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Average Total Sleep Time Measured by Actigraphy at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Total sleep time is the total amount of sleep obtained during the sleep period as measured by actigraphy, expressed in minutes. Higher values indicate longer sleep duration.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Average Effective Sleep Measured by Actigraphy at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Effective sleep is the percentage of time asleep during the sleep period as measured by actigraphy. Values range from 0% to 100%, with higher percentages indicating more consolidated sleep.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Average Sleep Efficiency Measured by Actigraphy at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Sleep efficiency is the ratio of total sleep time to time in bed, expressed as a percentage. Values range from 0% to 100%, with higher percentages indicating greater sleep efficiency.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Average Number of Nocturnal Awakenings Measured by Actigraphy at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Nocturnal awakenings are the number of times a participant awakens during the sleep period as measured by actigraphy. Lower values indicate fewer sleep disruptions.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Average Duration of Nocturnal Awakenings Measured by Actigraphy at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Duration of nocturnal awakenings is the average length of time spent awake during the sleep period as measured by actigraphy, expressed in minutes. Lower values indicate shorter awakening durations.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Average Sleep Onset Latency Measured by Actigraphy at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Sleep onset latency is the time from attempting to sleep to the onset of sleep as measured by actigraphy, expressed in minutes. Lower values indicate faster sleep onset.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Average Total Sleep Time Reported in Sleep Diaries at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Total sleep time as reported in caregiver-completed sleep diaries, representing the total amount of sleep the participant obtained during the sleep period, expressed in minutes. Higher values indicate longer sleep duration.
Week 0, Week 13, Week 26, Week 39, Week 52
Change from Baseline in Average Duration of Nocturnal Awakenings Reported in Sleep Diaries at 12 Months
Periodo de tiempo: Week 0, Week 13, Week 26, Week 39, Week 52
Duration of nocturnal awakenings as reported in caregiver-completed sleep diaries, representing the average length of time the participant spent awake during the sleep period, expressed in minutes. Lower values indicate shorter awakening durations.
Week 0, Week 13, Week 26, Week 39, Week 52

Colaboradores e Investigadores

Aquí es donde encontrará personas y organizaciones involucradas en este estudio.

Patrocinador

Massachusetts General Hospital

Colaboradores

Astellas Pharma Global Development, Inc.

Investigadores

  • Investigador principal: Christopher J Keary, MD, Massachusetts General Hospital

Fechas de registro del estudio

Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados ​​por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.

Fechas importantes del estudio

Inicio del estudio (Estimado)

1 de agosto de 2026

Finalización primaria (Estimado)

1 de septiembre de 2028

Finalización del estudio (Estimado)

1 de septiembre de 2029

Fechas de registro del estudio

Enviado por primera vez

11 de febrero de 2026

Primero enviado que cumplió con los criterios de control de calidad

11 de febrero de 2026

Publicado por primera vez (Actual)

18 de febrero de 2026

Actualizaciones de registros de estudio

Última actualización publicada (Actual)

21 de agosto de 2026

Última actualización enviada que cumplió con los criterios de control de calidad

19 de agosto de 2026

Última verificación

1 de agosto de 2026

Más información

Términos relacionados con este estudio

Palabras clave

Términos MeSH relevantes adicionales

Otros números de identificación del estudio

  • 2025P003327

Plan de datos de participantes individuales (IPD)

¿Planea compartir datos de participantes individuales (IPD)?

NO

Descripción del plan IPD

No existe plan alguno de compartir IPD externamente en este momento, debido a consideraciones respecto a la privacidad de los participantes, el riesgo de reidentificación dado el tamaño y vulnerabilidad de la población del estudio, y limitaciones en los materiales de consentimiento y el protocolo, que actualmente no permiten el intercambio externo de datos. La política institucional requiere Acuerdos de Uso de Datos (DUA) específicos para cualquier actividad de intercambio de datos, y el estudio está protegido por un Certificado de Confidencialidad, restringiendo aún más la divulgación de información identificable. El equipo de investigación podría considerar compartir datos anonimizados en el futuro, sujeto a la publicación de resultados y la implementación de mecanismos sólidos de gobernanza y aprobación.

Información sobre medicamentos y dispositivos, documentos del estudio

Estudia un producto farmacéutico regulado por la FDA de EE. UU.

No

Estudia un producto de dispositivo regulado por la FDA de EE. UU.

No

Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .

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