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| Name | Class |
|---|---|
| Astellas Pharma Global Development, Inc. | INDUSTRY |
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The goal of this observational study is to learn about the natural progression of Angelman syndrome (AS) in children and adults with a confirmed genetic diagnosis of AS. The main questions it aims to answer are:
Participants will:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants aged 1-17 years (inclusive) |
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| Participants aged 1-12 years (inclusive) |
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| Participants aged 18 years and older |
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| Measure | Description | Time Frame |
|---|---|---|
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Receptive Communication Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Expressive Communication Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Fine Motor Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
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Inclusion Criteria:
Individuals must satisfy the following criteria to be enrolled as study partners:
Exclusion Criteria:
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Individuals who are at least 1 year of age with a genetically-confirmed diagnosis of AS.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Caleb Weinstock | Contact | 781-860-1711 | MGHGLOW-AS@mgb.org | |
| Leena Phan | Contact | 781-860-1711 | MGHGLOW-AS@mgb.org |
| Name | Affiliation | Role |
|---|---|---|
| Christopher J Keary, MD | Massachusetts General Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| MGH Lurie Center for Autism | Recruiting | Lexington | Massachusetts | 02421 | United States |
There is no plan to externally share IPD at this time, due to considerations regarding participant privacy, the risk of reidentification given the size and vulnerability of the study population, and limitations in the consent materials and protocol, which do not currently permit external data sharing. Institutional policy requires specific Data Use Agreements (DUAs) for any data sharing activity, and the study is protected by a Certificate of Confidentiality, further restricting disclosure of identifiable information. The research team may consider sharing de-identified data in the future, contingent upon publication of results and implementation of robust governance and approval mechanisms.
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| ID | Term |
|---|---|
| D017204 | Angelman Syndrome |
| ID | Term |
|---|---|
| D009069 | Movement Disorders |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
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| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Gross Motor Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Expressive Communication Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Receptive Communication Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Fine Motor Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Gross Motor Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Symptoms of Angelman Syndrome-Clinical Global Impressions Scale of Severity (SAS-CGI-S) Global Severity Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, 12 months |
| Change from Baseline in Aberrant Behavior Checklist-Community (ABC-C) Hyperactivity/Noncompliance Subscale Score (ABC-H) at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Aberrant Behavior Checklist-Community (ABC-C) Irritability Subscale Score (ABC-I) at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Caregiver-Reported Angelman Syndrome Scale for Impact (CASS-I) Overall AS Symptoms Rating at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Children's Sleep Habits Questionnaire (CSHQ) Total Sleep Disturbance Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Children's Sleep Habits Questionnaire (CSHQ) Sleep Duration Subscale Score at 12 Months | The CSHQ Sleep Duration subscale assesses the adequacy of sleep duration. Higher scores indicate shorter or insufficient sleep duration. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Children's Sleep Habits Questionnaire (CSHQ) Night Wakings Subscale Score at 12 Months | The CSHQ Night Wakings subscale assesses the frequency and severity of nighttime awakenings. Higher scores indicate more frequent or problematic night wakings. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Observer-Reported Communication Ability (ORCA) Overall Communication T-Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Observer-Reported Communication Ability (ORCA) Expressive Communication T-Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Observer-Reported Communication Ability (ORCA) Receptive Communication T-Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Observer-Reported Communication Ability (ORCA) Pragmatic Communication T-Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Receptive Communication Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Receptive Communication Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Expressive Communication Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Expressive Communication Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Personal Daily Living Skills Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Personal Daily Living Skills Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Domestic Daily Living Skills Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Domestic Daily Living Skills Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Community Daily Living Skills Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Community Daily Living Skills Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Interpersonal Relationships Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Interpersonal Relationships Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Play and Leisure Time Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Play and Leisure Time Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Coping Skills Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Coping Skills Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Gross Motor Skills Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Gross Motor Skills Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Fine Motor Skills Age-Equivalent Score at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Fine Motor Skills Growth Score Equivalent at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Frequency of Reported Seizure Events at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Average Total Sleep Time Measured by Actigraphy at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Average Effective Sleep Measured by Actigraphy at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Average Sleep Efficiency Measured by Actigraphy at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Average Number of Nocturnal Awakenings Measured by Actigraphy at 12 Months | Nocturnal awakenings are the number of times a participant awakens during the sleep period as measured by actigraphy. Lower values indicate fewer sleep disruptions. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Average Duration of Nocturnal Awakenings Measured by Actigraphy at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Average Sleep Onset Latency Measured by Actigraphy at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Average Total Sleep Time Reported in Sleep Diaries at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| Change from Baseline in Average Duration of Nocturnal Awakenings Reported in Sleep Diaries at 12 Months | 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. | Baseline, 3 months, 6 months, 9 months, and 12 months |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |