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Et naturhistoriesstudie af Angelman syndrom (GLOW-AS)

19. august 2026 opdateret af: Christopher Keary, Massachusetts General Hospital

En longitudinal naturhistorisk undersøgelse af voksne og børn med Angelman syndrom

Målet med denne observationsundersøgelse er at lære om den naturlige udvikling af Angelman syndrom (AS) hos børn og voksne med en bekræftet genetisk diagnose af AS. De vigtigste spørgsmål, den sigter mod at besvare, er:

  • Hvordan udvikler færdigheder som kommunikation, motoriske evner og tilpasningsadfærd sig over en 1-årig periode hos personer med AS?
  • Er der specifikke mønstre i hjerneaktivitet eller søvn, der er forbundet med ændringer i AS-symptomer over tid?

Deltagerne vil:

  • Besøge undersøgelsesstedet 5 gange over 1 år (ca. hver 3. måned) til vurderinger.
  • Udføre tests og spørgeskemaer om udvikling, adfærd og søvn med hjælp fra deres omsorgspersoner.
  • Gennemgå elektroencefalogrammer (EEG'er) for at måle hjerneaktivitet og bære en søvnmonitoringsenhed hjemme (for at indsamle aktigrafidata).

Studieoversigt

Status

Rekruttering

Betingelser

Detaljeret beskrivelse

  • Longitudinal, naturhistorisk undersøgelse af 40 personer med AS, beriget for en adolescent population.
  • Ønsker at etablere normative data for at informere fremtidig design og fortolkning af kliniske forsøg for AS og for at støtte udviklingen af mere præcise diagnostiske værktøjer og målrettede terapeutiske interventioner for AS.
  • Spore adaptiv adfærd, kommunikation, udfordrende adfærd, generel sundhed, samlet sygdomsalvorlighed og almindelige samtidige tilstande (herunder epilepsi og søvnforstyrrelser) gennem standardiserede vurderinger.
  • Biomarkørdata indsamlet gennem EEG og aktigrafioptagelser vil blive analyseret for at vurdere aldersrelaterede ændringer i kliniske resultater og neurofysiologiske målinger.
  • Deltagere vil deltage i op til 5 personlige studiebesøg over en periode på 12 måneder: Uge 0, Uge 13, Uge 26, Uge 39, Uge 52.

Undersøgelsestype

Observationel

Tilmelding (Anslået)

40

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

Undersøgelse Kontakt Backup

Studiesteder

  • Forenede Stater
    • Massachusetts
      • Lexington, Massachusetts, Forenede Stater, 02421
        • Rekruttering
        • MGH Lurie Center for Autism
        • Ledende efterforsker:
          • Christopher J Keary, MD
        • Underforsker:
          • Ronald L Thibert, DO, MSPH
        • Kontakt:
        • Kontakt:

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

  • Barn
  • Voksen
  • Ældre voksen

Tager imod sunde frivillige

Ingen

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

Personer, der er mindst 1 år gamle med en genetisk bekræftet AS-diagnose.

Beskrivelse

Inklusionskriterier:

  • Deltageren har en primær klinisk diagnose af Angelmans syndrom med dokumenteret genetisk variation(er), der påvirker funktionen af UBE3A-genet inden for det humane 15q11.2-q13.3 locus. Sammenløbende tilstande (f.eks. autisme-spektrumforstyrrelse, cerebral parese, intellektuel funktionsnedsættelse) er tilladt; dog skal Angelmans syndrom være den primære kliniske diagnose.
  • Deltageren er mand eller kvinde (tildelt køn ved fødslen) og er ≥1 år ved det første studiebesøg.
  • Deltageren har en studiemakker, der opfylder studiemakkerkriterierne nedenfor.
  • Deltageren, hvis ikke i stand til at give informeret samtykke, har en passende stedfortræder, der er mindst 18 år og villig og i stand til at give informeret samtykke på deltagerens vegne i overensstemmelse med de gældende International Council for Harmonisation (ICH)-retningslinjer og anvendelige institutionelle regler.

Enkeltpersoner skal opfylde følgende kriterier for at blive indskrevet som studiemakker:

  • Studiemakkeren er en forælder eller primær omsorgsperson, der er mindst 18 år.
  • Studiemakkeren har regelmæssig kontakt med deltageren og er efter forskerens opfattelse tilstrækkeligt kendt med deltagerens igangværende tilstand til at give nøjagtig og aktuel information.
  • Studiemakkeren har tilstrækkelig engelskkundskaber til at udføre studiemakkerens vurderinger.
  • Studiemakkeren er villig og i stand til at give informeret samtykke på egen vegne i overensstemmelse med ICH-retningslinjer og anvendelige institutionelle regler.
  • Studiemakkeren er efter forskerens opfattelse pålidelig og kompetent; villig og i stand til at ledsage deltageren til alle studiebesøg og overholde studieprocedurer; tilgængelig via telefon eller e-mail efter behov; og tilstrækkeligt kendt med deltagerens igangværende tilstand(e) til at give nøjagtig og aktuel information om deltagerens helbred og velvære.

Eksklusionskriterier:

  • Deltageren har mindst én yderligere kendt genetisk abnormitet uden for det humane 15q11.2-q13.3 locus, der forårsager en sandsynlig eller kendt udviklingshandicap.
  • Mindst én standardbehandling (medicinering eller supplerende terapi) anvendt af deltageren blev ændret i løbet af de 28 dage (4 uger) før det første studiebesøg. Behandlinger omfatter, men er ikke begrænset til, doser af antiepileptika, medicin til adfærdsstyring, sovemedicin, gabapentin, cannabidiol, specielle diæter, kosttilskud, taleterapi, ergoterapi, anvendt adfærdsanalyse (ABA), psykosociale interventioner, fysioterapi eller ernæringsstøtte.
  • Deltageren har ustabil epilepsi, defineret som at have haft et besøg på akutmodtagelsen eller indlæggelse på grund af anfaldsrelaterede bekymringer inden for de 28 dage (4 uger) forud for det første studiebesøg.
  • Deltageren er i den fødedygtige alder og er enten gravid, ammer eller bruger ikke en tilstrækkelig præventionsmetode; afholdenhed er acceptabel.
  • Deltageren har en klinisk relevant historie med malignitet; klinisk signifikante unormale testresultater; klinisk signifikant kardiovaskulær, hæmatologisk, leversygdom, muskelsygdom, neurologisk sygdom eller nyresygdom; eller har oplevet andre kliniske hændelser, der efter forskerens opfattelse gør deltagelse uegnet.
  • Deltageren har en livslang historie med behandling med enhver celle- eller genbaseret terapi, inklusive antisense-oligonukleotider eller genredigerings-terapier.
  • Deltageren har modtaget enhver forsøgsterapi andet end en celle- eller genbaseret terapi inden for 28 dage eller 5 halveringstider (afhængigt af hvad der er længst) forud for det første studiebesøg.
  • Deltageren er i øjeblikket indskrevet eller planlægger at blive indskrevet i et interventionsstudie, der involverer et forsøgsmiddel eller en enhed i den planlagte observationsperiode.
  • Deltageren har en kendt kontraindikation over for elektroencefalografi, aktigrafi eller enhver anden studieprocedure beskrevet i vurderingsplanen.
  • Deltageren eller studiemakkeren er efter forskerens opfattelse uegnet til deltagelse på anden måde, inklusive manglende evne til at opfylde studiekravene.

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Kohorter og interventioner

Gruppe / kohorte
Deltagere i alderen 1-17 år (inklusive)
  • Kohorte 1: Deltagere, der er mindst 1 år gamle og under 18 år på indskrivningstidspunktet med genetisk bekræftet AS.
  • Denne kohorte fungerer som den brede gruppe til vurdering af AS's naturlige forløb gennem barndom og ungdom.
Deltagere i alderen 1-12 år (inklusive)
  • Kohorte 2: Deltagere, der er mindst 1 år gamle og yngre end 13 år ved tilmeldingstidspunktet med genetisk bekræftet AS.
  • En undergruppe af Kohorte 1, specifikt fokuseret på førpubertetsbørn.
  • Denne kohorte har til formål at indfange udviklingsmæssige milepæle og ændringer i en kritisk vækstperiode, hvor potentielle terapeutiske interventioner kan have den mest betydningsfulde effekt.
  • Deltagere i alderen 1-12 år vil først blive tildelt Kohorte 2, indtil dens kapacitet er nået. Når Kohorte 2 er fuld, vil deltagere i alderen 1-12 år kun blive indskrevet i Kohorte 1.
Deltagere i alderen 18 år og derover
  • Kohorte 3: Deltagere på mindst 18 år.
  • Denne kohorte er begrænset til op til 5 deltagere for at undersøge den naturlige historie af AS hos voksne, selvom det ikke er hovedfokus i denne undersøgelse.

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
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
Foranstaltningsbeskrivelse
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

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

Massachusetts General Hospital

Samarbejdspartnere

Astellas Pharma Global Development, Inc.

Efterforskere

  • Ledende efterforsker: Christopher J Keary, MD, Massachusetts General Hospital

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Anslået)

1. august 2026

Primær færdiggørelse (Anslået)

1. september 2028

Studieafslutning (Anslået)

1. september 2029

Datoer for studieregistrering

Først indsendt

11. februar 2026

Først indsendt, der opfyldte QC-kriterier

11. februar 2026

Først opslået (Faktiske)

18. februar 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

21. august 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

19. august 2026

Sidst verificeret

1. august 2026

Mere information

Begreber relateret til denne undersøgelse

Nøgleord

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

  • 2025P003327

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

INGEN

IPD-planbeskrivelse

Der er på nuværende tidspunkt ikke planer om eksternt at dele individuel deltagerdata (IPD) på grund af hensyn til deltagernes privatliv, risikoen for reidentifikation på grund af størrelsen og sårbarheden af undersøgelsespopulationen samt begrænsninger i samtykkematerialer og protokollen, som i øjeblikket ikke tillader ekstern datadeling. Institutionel politik kræver specifikke Data Use Agreements (DUAs) for enhver datadelingsaktivitet, og undersøgelsen er beskyttet af et Certificate of Confidentiality, som yderligere begrænser offentliggørelse af identificerbar information. Forskningsholdet kan overveje at dele de-identificerede data i fremtiden, afhængigt af publicering af resultater og implementering af robuste styrings- og godkendelsesmekanismer.

Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter

Studerer et amerikansk FDA-reguleret lægemiddelprodukt

Ingen

Studerer et amerikansk FDA-reguleret enhedsprodukt

Ingen

Disse oplysninger blev hentet direkte fra webstedet clinicaltrials.gov uden ændringer. Hvis du har nogen anmodninger om at ændre, fjerne eller opdatere dine undersøgelsesoplysninger, bedes du kontakte register@clinicaltrials.gov. Så snart en ændring er implementeret på clinicaltrials.gov, vil denne også blive opdateret automatisk på vores hjemmeside .

Abonner