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En naturhistorisk studie av Angelman syndrom (GLOW-AS)

19. august 2026 oppdatert av: Christopher Keary, Massachusetts General Hospital

En longitudinell naturhistorisk studie av voksne og barn med Angelmans syndrom

Målet med denne observasjonsstudien er å lære om den naturlige progresjonen av Angelman syndrom (AS) hos barn og voksne med en bekreftet genetisk diagnose av AS. De viktigste spørsmålene den tar sikte på å besvare er:

  • Hvordan endrer utviklingsferdigheter, som kommunikasjon, motoriske evner og tilpasningsatferd, seg over en 1-årsperiode hos personer med AS?
  • Finnes det spesifikke mønstre i hjerneaktivitet eller søvn som er assosiert med endringer i AS-symptomer over tid?

Deltakere vil:

  • Besøke studieområdet 5 ganger over 1 år (omtrent hver 3. måned) for vurderinger.
  • Fullføre tester og spørreskjemaer om utvikling, atferd og søvn med hjelp fra sine omsorgspersoner.
  • Gjennomgå elektroencefalogram (EEG) for å måle hjerneaktivitet og bruke en søvnovervåkingsenhet hjemme (for å samle aktigrafidata).

Studieoversikt

Status

Rekruttering

Forhold

Detaljert beskrivelse

  • Longitudinal, naturhistorisk studie av 40 personer med AS, beriket for en ungdomspopulasjon.
  • Har som mål å etablere normative data for å informere fremtidig design og tolkning av kliniske studier for AS, og for å støtte utviklingen av mer presise diagnostiske verktøy og målrettede terapeutiske intervensjoner for AS.
  • Sporer tilpasset atferd, kommunikasjon, utfordrende atferd, generell helse, total sykdomsalvorlighet og vanlige samtidige tilstander (inkludert epilepsi og søvnforstyrrelser) gjennom standardiserte vurderinger.
  • Biomarkørdata samlet inn gjennom EEG og aktigrafi-opptak vil bli analysert for å vurdere aldersrelaterte endringer i kliniske utfall og nevrofysiologiske mål.
  • Deltakere vil delta på opptil 5 personlige studiebesøk i løpet av 12 måneder: Uke 0, Uke 13, Uke 26, Uke 39, Uke 52.

Studietype

Observasjonsmessig

Registrering (Antatt)

40

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Studer Kontakt Backup

Studiesteder

  • Forente stater
    • Massachusetts
      • Lexington, Massachusetts, Forente stater, 02421
        • Rekruttering
        • MGH Lurie Center for Autism
        • Hovedetterforsker:
          • Christopher J Keary, MD
        • Underetterforsker:
          • Ronald L Thibert, DO, MSPH
        • Ta kontakt med:
        • Ta kontakt med:

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

  • Barn
  • Voksen
  • Eldre voksen

Tar imot friske frivillige

Nei

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

Personer som er minst 1 år gamle med en genetisk bekreftet diagnose av AS.

Beskrivelse

Inklusjonskriterier:

  • Deltakeren har en primær klinisk diagnose av Angelman-syndrom med dokumentert genetisk variasjon(er) som påvirker funksjonen til UBE3A-genet i det humane 15q11.2-q13.3-lokuset. Samtidige tilstander (f.eks. autisme-spektrumforstyrrelse, cerebral parese, intellektuell funksjonshemning) er tillatt; men Angelman-syndrom må være den primære kliniske diagnosen.
  • Deltakeren er mann eller kvinne (tildelt kjønn ved fødsel) og er ≥1 år ved første studiebesøk.
  • Deltakeren har en studiekollega som oppfyller studiekollega-kriteriene nedenfor.
  • Deltakeren, hvis de ikke er i stand til å gi informert samtykke, har en passende verge som er minst 18 år gammel og villig og i stand til å gi informert samtykke på vegne av deltakeren i samsvar med gjeldende International Council for Harmonisation (ICH)-retningslinjer og gjeldende institusjonelle forskrifter.

Personer må oppfylle følgende kriterier for å bli inkludert som studiekollegaer:

  • Studiekollegaen er en forelder eller primæromsorgsperson som er minst 18 år gammel.
  • Studiekollegaen har jevnlig kontakt med deltakeren og, etter forskerens vurdering, er tilstrekkelig kjent med deltakerens pågående tilstand til å gi nøyaktig og oppdatert informasjon.
  • Studiekollegaen har tilstrekkelig engelskkunnskaper til å fullføre studiekollega-vurderinger.
  • Studiekollegaen er villig og i stand til å gi informert samtykke på egen vegne i samsvar med ICH-retningslinjer og gjeldende institusjonelle forskrifter.
  • Studiekollegaen er, etter forskerens vurdering, pålitelig og kompetent; villig og i stand til å følge deltakeren til alle studiebesøk og følge studieprosedyrer; tilgjengelig via telefon eller e-post etter behov; og tilstrekkelig kjent med deltakerens pågående tilstand(er) til å gi nøyaktig og oppdatert informasjon om deltakerens helse og velvære.

Eksklusjonskriterier:

  • Deltakeren har minst én ytterligere kjent genetisk abnormitet utenfor det humane 15q11.2-q13.3-lokuset som forårsaker en sannsynlig eller kjent utviklingshemning.
  • Minst én standardbehandling (medikament eller tilleggsterapi) som deltakeren bruker, ble endret i løpet av de 28 dagene (4 uker) før første studiebesøk. Behandlinger inkluderer, men er ikke begrenset til, doser av antiepileptiske medikamenter, atferdsregulerende medikamenter, sovemedisiner, gabapentin, cannabidiol, spesialdieter, kosttilskudd, taleterapi, ergoterapi, anvendt atferdsanalyse (ABA), psykososiale intervensjoner, fysioterapi eller ernæringsstøtte.
  • Deltakeren har ustabil epilepsi, definert som å ha hatt et besøk på akuttmottak eller innleggelse for anfallsrelaterte bekymringer innenfor de 28 dagene (4 uker) før første studiebesøk.
  • Deltakeren er i fruktbar alder og er enten gravid, ammer eller bruker ikke en tilstrekkelig prevensjonsmetode; avholdenhet er akseptabelt.
  • Deltakeren har en klinisk relevant historie med malignitet; klinisk signifikante unormale testresultater; klinisk signifikant kardiovaskulær, hematologisk, hepatisk, muskelskjelett, nevrologisk eller nyresykdom; eller har opplevd andre kliniske hendelser som, etter forskerens vurdering, gjør deltakelse uegnet.
  • Deltakeren har livslang historie med behandling med enhver celle- eller genbasert terapi, inkludert antisense-oligonukleotider eller genredigeringsbehandlinger.
  • Deltakeren har mottatt enhver undersøkelsesterapi annet enn celle- eller genbasert terapi innen 28 dager eller 5 halveringstider (avhengig av hva som er lengst) før første studiebesøk.
  • Deltakeren er for tiden inkludert eller planlegger å delta i en intervensjonsstudie som involverer et undersøkelsesmiddel eller -utstyr i løpet av den planlagte observasjonsperioden.
  • Deltakeren har en kjent kontraindikasjon for elektroencefalografi, aktigrafi eller enhver annen studieprosedyre beskrevet i vurderingsplanen.
  • Deltakeren eller studiekollegaen er, etter forskerens vurdering, på annen måte uegnet for deltakelse, inkludert manglende evne til å oppfylle studiekravene.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Kohorter og intervensjoner

Gruppe / Kohort
Deltakere i alderen 1–17 år (inkludert)
  • Kohort 1: Deltakere som er minst 1 år gamle og under 18 år gamle ved påmelding med genetisk bekreftet AS.
  • Denne kohorten fungerer som den brede gruppen for å vurdere den naturlige historien til AS gjennom barndom og ungdom.
Deltakere i alderen 1–12 år (inkludert)
  • Kohort 2: Deltakere som er minst 1 år gamle og yngre enn 13 år ved inkludering med genetisk bekreftet AS.
  • En undergruppe av Kohort 1, spesielt fokusert på førpubertetsbarn.
  • Denne kohorten har som mål å fange utviklingsmilepæler og endringer i en kritisk vekstperiode hvor potensielle terapeutiske tiltak kan ha størst effekt.
  • Deltakere i alderen 1-12 år vil først bli tildelt Kohort 2 til kapasiteten er nådd. Når Kohort 2 er full, vil deltakere i alderen 1-12 år kun bli inkludert i Kohort 1.
Deltakere i alderen 18 år og eldre
  • Kohort 3: Deltakere som er minst 18 år gamle.
  • Denne kohorten er begrenset til opptil 5 deltakere for å utforske den naturlige historien til AS hos voksne, selv om det ikke er hovedfokuset for denne studien.

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Growth Score Equivalent at 12 Months
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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

Sekundære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Age-Equivalent Score at 12 Months
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

Massachusetts General Hospital

Samarbeidspartnere

Astellas Pharma Global Development, Inc.

Etterforskere

  • Hovedetterforsker: Christopher J Keary, MD, Massachusetts General Hospital

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Antatt)

1. august 2026

Primær fullføring (Antatt)

1. september 2028

Studiet fullført (Antatt)

1. september 2029

Datoer for studieregistrering

Først innsendt

11. februar 2026

Først innsendt som oppfylte QC-kriteriene

11. februar 2026

Først lagt ut (Faktiske)

18. februar 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

21. august 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

19. august 2026

Sist bekreftet

1. august 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • 2025P003327

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

NEI

IPD-planbeskrivelse

Det er for tiden ingen planer om å dele IPD eksternt, på grunn av hensyn til deltakernes personvern, risikoen for reidentifisering gitt størrelsen og sårbarheten til studiepopulasjonen, og begrensninger i samtykkematerialene og protokollen, som for øyeblikket ikke tillater ekstern datadeling. Institusjonell politikk krever spesifikke Data Use Agreements (DUAs) for enhver datadeling, og studien er beskyttet av et Certificate of Confidentiality, som ytterligere begrenser avsløring av identifiserbar informasjon. Forskningsgruppen kan vurdere å dele de-identifiserte data i fremtiden, avhengig av publisering av resultater og implementering av robuste styrings- og godkjenningsmekanismer.

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .

Abonnere