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天使综合征自然史研究 (GLOW-AS)

2026年8月19日 更新者：Christopher Keary、Massachusetts General Hospital

一项针对安格曼综合征成人和儿童的纵向自然史研究

本观察性研究旨在了解经基因诊断确认患有安格曼综合征（AS）的儿童和成人的疾病自然进展过程。 研究主要回答以下问题：

  • AS患者的发育技能（如沟通能力、运动能力和适应行为）在1年内如何变化？
  • 是否存在与AS症状随时间变化相关的特定脑活动或睡眠模式？

参与者将：

  • 在1年内到研究中心进行5次评估（约每3个月一次）。
  • 在照料者协助下完成关于发育、行为和睡眠的测试与问卷。
  • 接受脑电图（EEG）检查以测量脑活动，并在家中佩戴睡眠监测设备（收集体动记录数据）。

研究概览

地位

招聘中

条件

详细说明

  • 针对40名AS患者进行的纵向自然史研究，特别关注青少年群体。
  • 旨在建立规范数据，为未来AS临床试验的设计和解读提供依据，并支持开发更精确的AS诊断工具和靶向治疗干预措施。
  • 通过标准化评估追踪适应行为、沟通能力、挑战性行为、一般健康状况、总体疾病严重程度以及常见共病（包括癫痫和睡眠障碍）。
  • 将通过脑电图和活动记录仪收集的生物标志物数据进行分析，以评估临床结果和神经生理指标中与年龄相关的变化。
  • 参与者将在12个月内参加最多5次现场研究访视：第0周、第13周、第26周、第39周、第52周。

研究类型

观察性的

注册 (估计的)

40

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

研究联系人备份

学习地点

  • 美国
    • Massachusetts
      • Lexington、Massachusetts、美国、02421
        • 招聘中
        • MGH Lurie Center for Autism
        • 首席研究员：
          • Christopher J Keary, MD
        • 副研究员：
          • Ronald L Thibert, DO, MSPH
        • 接触：
        • 接触：

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 孩子
  • 成人
  • 年长者

接受健康志愿者

不

取样方法

非概率样本

研究人群

年龄至少1岁且经基因确诊为安格曼综合征的患者。

描述

纳入标准：

  • 参与者临床主要诊断为安格曼综合征，并记录到影响人类15q11.2-q13.3基因座UBE3A基因功能的遗传变异。 允许存在共病（例如自闭症谱系障碍、脑性瘫痪、智力残疾），但安格曼综合征必须是临床主要诊断。
  • 参与者为男性或女性（出生时指定性别），在首次研究访视时年龄≥1岁。
  • 参与者有一位符合以下研究伙伴标准的研究伙伴。
  • 若参与者无法提供知情同意，需有一位年满18岁且愿意并能够根据现行国际协调会议（ICH）指南及适用机构规定代表参与者提供知情同意的合适代理人。

个人必须满足以下标准才能注册为研究伙伴：

  • 研究伙伴为年满18岁的父母或主要照护者。
  • 研究伙伴与参与者保持经常联系，且研究者认为其充分了解参与者的当前状况，能提供准确且最新的信息。
  • 研究伙伴具备足够的英语能力以完成研究伙伴评估。
  • 研究伙伴愿意并能够根据ICH指南及适用机构规定代表自己提供知情同意。
  • 研究者认为研究伙伴可靠且胜任；愿意并能够陪同参与者参加所有研究访视并遵守研究程序；必要时可通过电话或电子邮件联系；且充分了解参与者的当前状况，能提供关于参与者健康状况和福祉的准确且最新信息。

排除标准：

  • 参与者至少存在一个人类15q11.2-q13.3基因座外已知的遗传异常，该异常可能导致或已知导致发育障碍。
  • 在首次研究访视前28天（4周）内，参与者使用的至少一种标准护理治疗（药物或辅助疗法）发生变更。 治疗包括但不限于抗癫痫药物剂量、行为管理药物、助眠药物、加巴喷丁、大麻二酚、特殊饮食、补充剂、言语治疗、职业治疗、应用行为分析（ABA）、心理社会干预、物理治疗或营养支持。
  • 参与者患有不稳定癫痫，定义为在首次研究访视前28天（4周）内因癫痫相关问题就诊急诊或住院。
  • 参与者具有生育潜力且处于怀孕期、哺乳期或未采用充分避孕措施；禁欲可接受。
  • 参与者有临床相关的恶性肿瘤病史；临床意义显著的异常检测结果；临床意义显著的心血管、血液、肝脏、肌肉、神经或肾脏疾病；或经历过研究者认为不适合参与的其他临床事件。
  • 参与者终生接受过任何细胞或基因疗法治疗，包括反义寡核苷酸或基因编辑疗法。
  • 在首次研究访视前28天或5个半衰期（以较长者为准）内，参与者接受过除细胞或基因疗法外的任何研究性治疗。
  • 参与者当前正在参与或计划在计划观察期内参与涉及研究性药物或器械的干预性研究。
  • 参与者已知对脑电图、活动记录仪或评估计划中描述的任何其他研究程序存在禁忌症。
  • 研究者认为参与者或研究伙伴因任何其他原因不适合参与，包括无法满足研究要求。

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

队列和干预

团体/队列
参与者年龄1-17岁（含）
  • 队列 1：入组时年龄至少 1 岁且未满 18 岁、经基因确诊为 AS 的参与者。
  • 该队列作为评估儿童期和青春期 AS 自然史的广泛群体。
年龄为1-12岁（含）的参与者
  • 队列2：入组时年龄至少1岁且小于13岁、经基因确诊为AS的参与者。
  • 队列1的一个子集，专门关注青春期前儿童。
  • 该队列旨在捕捉关键生长期的发展里程碑和变化，在此期间潜在治疗干预可能产生最显著影响。
  • 1-12岁的参与者将首先被分配至队列2，直至该队列满员。一旦队列2满员，1-12岁的参与者将仅被纳入队列1。
年龄在18岁及以上的参与者
  • 队列 3：参与者年龄至少为 18 岁。
  • 尽管这不是本研究的主要重点，但该队列仅限于最多 5 名参与者，以探索成人 AS 的自然史。

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Growth Score Equivalent at 12 Months
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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

次要结果测量

结果测量
措施说明
大体时间
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Age-Equivalent Score at 12 Months
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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
大体时间：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

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

Massachusetts General Hospital

合作者

Astellas Pharma Global Development, Inc.

调查人员

  • 首席研究员：Christopher J Keary, MD、Massachusetts General Hospital

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (估计的)

2026年8月1日

初级完成 (估计的)

2028年9月1日

研究完成 (估计的)

2029年9月1日

研究注册日期

首次提交

2026年2月11日

首先提交符合 QC 标准的

2026年2月11日

首次发布 (实际的)

2026年2月18日

研究记录更新

最后更新发布 (实际的)

2026年8月21日

上次提交的符合 QC 标准的更新

2026年8月19日

最后验证

2026年8月1日

更多信息

与本研究相关的术语

关键字

其他相关的 MeSH 术语

其他研究编号

  • 2025P003327

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

不

IPD 计划说明

目前尚无计划对外共享个体参与者数据（IPD），原因包括对参与者隐私的考量、研究人群规模较小且脆弱性较高导致的重新识别风险，以及知情同意材料和方案中未允许外部数据共享的限制。 机构政策要求所有数据共享活动必须签订具体的数据使用协议（DUA），且本研究受保密证书保护，进一步限制可识别信息的披露。 研究团队未来可能考虑共享去标识化数据，前提是研究结果已发表并建立了完善的治理与审批机制。

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

不

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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