Um Estudo de História Natural da Síndrome de Angelman (GLOW-AS)
19 de agosto de 2026 atualizado por: Christopher Keary, Massachusetts General Hospital
Um Estudo Longitudinal de História Natural de Adultos e Crianças com Síndrome de Angelman
O objetivo deste estudo observacional é aprender sobre a progressão natural da síndrome de Angelman (SA) em crianças e adultos com um diagnóstico genético confirmado de SA. As principais questões que pretende responder são:
- Como é que as competências de desenvolvimento, como a comunicação, as capacidades motoras e os comportamentos adaptativos, mudam ao longo de um período de 1 ano em pessoas com SA?
- Existem padrões específicos na atividade cerebral ou no sono que estão associados a mudanças nos sintomas de SA ao longo do tempo?
Os participantes irão:
- Visitar o local do estudo 5 vezes ao longo de 1 ano (aproximadamente a cada 3 meses) para avaliações.
- Completar testes e questionários sobre desenvolvimento, comportamentos e sono com a ajuda dos seus cuidadores.
- Submeter-se a eletroencefalogramas (EEGs) para medir a atividade cerebral e usar um dispositivo de monitorização do sono em casa (para recolher dados de actigrafia).
Visão geral do estudo
Status
Status
Recrutamento
Condições
Condições
Descrição detalhada
- Estudo longitudinal de história natural de 40 indivíduos com AS, enriquecido para uma população adolescente.
- Procura estabelecer dados normativos para informar o futuro desenho e interpretação de ensaios clínicos para a AS e apoiar o desenvolvimento de ferramentas de diagnóstico mais precisas e intervenções terapêuticas direcionadas para a AS.
- Acompanhar o comportamento adaptativo, a comunicação, comportamentos desafiadores, saúde geral, gravidade geral da doença e condições comuns coexistentes (incluindo epilepsia e distúrbios do sono) através de avaliações padronizadas.
- Os dados biomarcadores recolhidos através de EEGs e registos de actigrafia serão analisados para avaliar alterações relacionadas com a idade nos resultados clínicos e medidas neurofisiológicas.
- Os participantes realizarão até 5 visitas de estudo presenciais ao longo de 12 meses: Semana 0, Semana 13, Semana 26, Semana 39, Semana 52.
Tipo de estudo
Tipo de estudo
Observacional
Inscrição (Estimado)
Inscrição
40
Contactos e Locais
Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.
Contato de estudo
Contato de estudo
- Nome: Leena Phan
- Número de telefone: 781-860-1711
- E-mail: MGHGLOW-AS@mgb.org
Estude backup de contato
- Nome: Riley Shubb
- Número de telefone: 781-860-1711
- E-mail: MGHGLOW-AS@mgb.org
Locais de estudo
-
-
Massachusetts
-
Lexington, Massachusetts, Estados Unidos, 02421
- Recrutamento
- MGH Lurie Center for Autism
-
Investigador principal:
- Christopher J Keary, MD
-
Subinvestigador:
- Ronald L Thibert, DO, MSPH
-
Contato:
- Leena Phan
- Número de telefone: 781-860-1711
- E-mail: MGHGLOW-AS@mgb.org
-
Contato:
- Riley Shubb
- Número de telefone: 781-860-1711
- E-mail: MGHGLOW-AS@mgb.org
-
-
Critérios de participação
Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.
Critérios de elegibilidade
Critérios de elegibilidade
Idades elegíveis para estudo
- Filho
- Adulto
- Adulto mais velho
Aceita Voluntários Saudáveis
Não
Método de amostragem
Amostra Não Probabilística
População do estudo
Indivíduos com pelo menos 1 ano de idade com um diagnóstico de AS confirmado geneticamente.
Descrição
Critérios de Inclusão:
- O participante tem um diagnóstico clínico primário de síndrome de Angelman com variação(ões) genética(s) documentada(s) que afeta(m) a função do gene UBE3A dentro do locus humano 15q11.2-q13.3. Condições coexistentes (por exemplo, perturbação do espetro do autismo, paralisia cerebral, deficiência intelectual) são permitidas; no entanto, a síndrome de Angelman deve ser o diagnóstico clínico primário.
- O participante é do sexo masculino ou feminino (sexo atribuído à nascença) e tem idade ≥1 ano na visita inicial do estudo.
- O participante tem um parceiro de estudo que cumpre os critérios de parceiro de estudo abaixo.
- O participante, se incapaz de fornecer consentimento informado, tem um representante apropriado com pelo menos 18 anos de idade, disposto e capaz de fornecer consentimento informado em nome do participante, de acordo com as diretrizes atuais do Conselho Internacional para Harmonização (ICH) e regulamentos institucionais aplicáveis.
Os indivíduos devem satisfazer os seguintes critérios para serem inscritos como parceiros de estudo:
- O parceiro de estudo é um pai ou cuidador primário com pelo menos 18 anos de idade.
- O parceiro de estudo tem contacto consistente com o participante e, na opinião do investigador, tem conhecimento suficiente sobre a condição atual do participante para fornecer informações precisas e atualizadas.
- O parceiro de estudo tem proficiência suficiente na língua inglesa para completar as avaliações do parceiro de estudo.
- O parceiro de estudo está disposto e é capaz de fornecer consentimento informado em seu próprio nome, de acordo com as diretrizes do ICH e regulamentos institucionais aplicáveis.
- O parceiro de estudo é, na opinião do investigador, fiável e competente; disposto e capaz de acompanhar o participante a todas as visitas do estudo e cumprir os procedimentos do estudo; contactável por telefone ou e-mail conforme necessário; e suficientemente informado sobre a(s) condição(ões) atual(ais) do participante para fornecer informações precisas e atualizadas sobre a saúde e bem-estar do participante.
Critérios de Exclusão:
- O participante tem pelo menos uma anormalidade genética conhecida adicional fora do locus humano 15q11.2-q13.3 que causa uma deficiência de desenvolvimento provável ou conhecida.
- Pelo menos um tratamento padrão (medicação ou terapia adjuvante) utilizado pelo participante foi alterado durante os 28 dias (4 semanas) anteriores à primeira visita do estudo. Os tratamentos incluem, mas não se limitam a, doses de medicamentos antiepiléticos, medicamentos para gestão comportamental, medicamentos para o sono, gabapentina, canabidiol, dietas especiais, suplementos, terapia da fala, terapia ocupacional, análise comportamental aplicada (ABA), intervenções psicossociais, fisioterapia ou suporte nutricional.
- O participante tem epilepsia instável, definida como tendo uma visita ao serviço de urgência ou hospitalização por preocupações relacionadas com convulsões nos 28 dias (4 semanas) que antecedem a visita inicial do estudo.
- O participante tem potencial de procriação e está grávida, a amamentar ou não utiliza um método contracetivo adequado; a abstinência é aceitável.
- O participante tem um historial clinicamente relevante de malignidade; resultados de testes anormais clinicamente significativos; doença cardiovascular, hematológica, hepática, muscular, neurológica ou renal clinicamente significativa; ou experienciou outros eventos clínicos que, na opinião do investigador, tornam a participação inadequada.
- O participante tem um historial de tratamento com qualquer terapia baseada em células ou genes, incluindo oligonucleótidos antisense ou terapias de edição genética.
- O participante recebeu qualquer terapia em investigação que não seja uma terapia baseada em células ou genes dentro de 28 dias ou 5 meias-vidas (o que for mais longo) que antecedem a visita inicial do estudo.
- O participante está atualmente inscrito ou planeia inscrever-se num estudo interventivo envolvendo um agente ou dispositivo em investigação durante o período de observação planeado.
- O participante tem uma contraindicação conhecida para eletroencefalografia, actigrafia ou qualquer outro procedimento do estudo descrito no cronograma de avaliações.
- O participante ou parceiro de estudo é, na opinião do investigador, inadequado para participação de qualquer outra forma, incluindo incapacidade de cumprir os requisitos do estudo.
Plano de estudo
Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.
Como o estudo é projetado?
Detalhes do projeto
Número de grupos/coortes
3
Coortes e Intervenções
Grupo / CoorteGrupo / Coorte |
|---|
|
Participantes com idades entre 1 e 17 anos (inclusive)
|
|
Participantes com idades compreendidas entre os 1 e os 12 anos (inclusive)
|
|
Participantes com 18 anos ou mais
|
O que o estudo está medindo?
Medidas de resultados primários
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
|
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Growth Score Equivalent at 12 Months
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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 resultados secundários
Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
|
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Age-Equivalent Score at 12 Months
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
É aqui que você encontrará pessoas e organizações envolvidas com este estudo.
Patrocinador
Patrocinador
Colaboradores
Colaboradores
Investigadores
Investigadores
- Investigador principal: Christopher J Keary, MD, Massachusetts General Hospital
Datas de registro do estudo
Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.
Datas Principais do Estudo
Início do estudo (Estimado)
Início do estudo
1 de agosto de 2026
Conclusão Primária (Estimado)
Conclusão Primária
1 de setembro de 2028
Conclusão do estudo (Estimado)
Conclusão do estudo
1 de setembro de 2029
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez
11 de fevereiro de 2026
Enviado pela primeira vez que atendeu aos critérios de CQ
Enviado pela primeira vez que atendeu aos critérios de CQ
11 de fevereiro de 2026
Primeira postagem (Real)
Primeira postagem
18 de fevereiro de 2026
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última Atualização Postada
21 de agosto de 2026
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última atualização enviada que atendeu aos critérios de controle de qualidade
19 de agosto de 2026
Última verificação
Última verificação
1 de agosto de 2026
Mais Informações
Termos relacionados a este estudo
Palavras-chave
Termos MeSH relevantes adicionais
Outros números de identificação do estudo
Outros números de identificação do estudo
- 2025P003327
Plano para dados de participantes individuais (IPD)
Planeja compartilhar dados de participantes individuais (IPD)?
NÃO
Descrição do plano IPD
Não há planos para partilhar externamente os Dados Individuais de Participantes (DIP) neste momento, devido a considerações relativas à privacidade dos participantes, ao risco de reidentificação dada a dimensão e vulnerabilidade da população do estudo, e limitações nos materiais de consentimento e protocolo, que atualmente não permitem a partilha externa de dados.
A política institucional exige Acordos de Utilização de Dados (AUD) específicos para qualquer atividade de partilha de dados, e o estudo está protegido por um Certificado de Confidencialidade, restringindo ainda mais a divulgação de informações identificáveis.
A equipa de investigação poderá considerar partilhar dados anonimizados no futuro, dependendo da publicação dos resultados e da implementação de mecanismos robustos de governação e aprovação.
A política institucional exige Acordos de Utilização de Dados (AUD) específicos para qualquer atividade de partilha de dados, e o estudo está protegido por um Certificado de Confidencialidade, restringindo ainda mais a divulgação de informações identificáveis.
A equipa de investigação poderá considerar partilhar dados anonimizados no futuro, dependendo da publicação dos resultados e da implementação de mecanismos robustos de governação e aprovação.
Informações sobre medicamentos e dispositivos, documentos de estudo
Estuda um medicamento regulamentado pela FDA dos EUA
Não
Estuda um produto de dispositivo regulamentado pela FDA dos EUA
Não
Essas informações foram obtidas diretamente do site clinicaltrials.gov sem nenhuma alteração. Se você tiver alguma solicitação para alterar, remover ou atualizar os detalhes do seu estudo, entre em contato com register@clinicaltrials.gov. Assim que uma alteração for implementada em clinicaltrials.gov, ela também será atualizada automaticamente em nosso site .