Denne siden ble automatisk oversatt og nøyaktigheten av oversettelsen er ikke garantert. Vennligst referer til engelsk versjon for en kildetekst.

IMPACT-Ready Study

6. november 2026 oppdatert av: Coalition for Aligning Science

Aligning Research to Impact Autism (ARIA) Innovative Medicine and Precision Approaches to Clinical Trials (IMPACT)-Ready Study

The IMPACT-Ready Study is a multi-site, international short-term prospective natural history study to develop new outcome measures, clinical endpoints, and biomarkers for autism and related neurodevelopmental conditions. The primary objective is to systematically document over time the behavioral, medical, neurophysiological, and genetic presentation of children with profound autism and related neurodevelopmental conditions. Participants will be initially separated into two cohorts: those with a confirmed diagnosis of a monogenic disorder associated with profound autism, including ARID1B, GRIN2B, RNU4-2, SCN2A, SLC6A1, or other genes of interest (Cohort 1), or those with likely profound or profound autism without a definitive genetic cause for their autism at the time of enrollment who use few or no words to communicate, with significant cognitive impairments (Cohort 2).

All participants will complete a baseline visit, and a subset of participants will complete either 6-month or annual follow-up visits based on the results of their genetic testing and their age.

After whole genome sequencing and Fragile X testing at the baseline visit, Cohort 2 will be split into 2 groups: Cohort 2a (those with a definitive genetic cause for autism not identified) and Cohort 2b (those with the presence of pathogenic or likely pathogenic variant(s) in a neurodevelopmental gene other than one of the targeted genes of interest AND those that do not meet the criteria for profound/likely profound autism following baseline assessment).

Studieoversikt

Status

Har ikke rekruttert ennå

Forhold

Detaljert beskrivelse

The ARIA IMPACT-Ready Study aims to better understand and measure how autism and related neurodevelopmental conditions develop and change over time. What we learn may help improve future research and treatments. Eligibility criteria is children ages 0-18 years who have a pathogenic or likely pathogenic variant in ARID1B, GRIN2B, RNU4-2, SCN2A, SLC6A1, or other genes of interest AND children ages 2-18 years who have likely profound or profound autism with no known genetic cause and use few or no words to communicate (are minimally verbal or non-verbal), with significant cognitive impairments. Participation lasts up to 2 years, and depending on the child's age, it involves 1 to 5 study visits. Each visit will last between 5-8 hours and may be split over 2 to 3 days, if needed. During the study, participants will:

  • Provide a blood or cheek swab sample for whole genome sequencing (WGS). The blood or cheek sample is also required from biological parents, if available.
  • Complete physical and neurological exams
  • Participate in play-based activities and surveys to better understand cognitive (IQ), behavioral, and developmental skills.
  • Participate in studies to examine biomarkers of brain function, such as electroencephalography and eye tracking
  • Wear a smartwatch, an EEG headband, and have a thin mat placed under their mattress to monitor their sleep at home for 3 nights.
  • Parents will also be asked questions about their child's family and medical history.

Families receive a detailed behavioral report, genetic testing results and $250 for each completed visit. Reasonable travel costs will be covered.

Studietype

Observasjonsmessig

Registrering (Antatt)

1250

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

  • Canada
    • Ontario
      • East York, Ontario, Canada
        • Holland Bloorview Rehabilitation Hospital/Hospital for Sick Children
        • Hovedetterforsker:
          • Evdokia Anagnostou, MD, FRCPC
        • Underetterforsker:
          • Stephen Scherer, PhD, DSc, FRSC
        • Underetterforsker:
          • Danielle Baribeau, MD, PhD
  • Forente stater
    • California
      • Los Angeles, California, Forente stater, 90027
        • Children's Hospital Los Angeles/University of California Los Angeles
        • Hovedetterforsker:
          • Jonathan Santoro, MD
        • Underetterforsker:
          • Rajsekar Rajaraman, MD, MS
        • Underetterforsker:
          • Rujuta Wilson, MD
    • Colorado
      • Aurora, Colorado, Forente stater, 80045
        • University of Colorado Anschutz Medical Campus/Children's Hospital of Colorado
        • Hovedetterforsker:
          • Timothy Benke, MD, PhD
        • Underetterforsker:
          • Scott Demarest, MD
        • Underetterforsker:
          • Nicole Tartaglia, MD
    • Georgia
      • Atlanta, Georgia, Forente stater, 30322
        • Emory University/Georgia State University/Children's Healthcare of Atlanta
        • Hovedetterforsker:
          • Ami Klin, PhD
        • Underetterforsker:
          • Warren Jones, PhD
        • Underetterforsker:
          • Nathan Call, PhD, BCBA-D
    • Massachusetts
      • Boston, Massachusetts, Forente stater, 02115
        • Boston Children's Hospital
        • Hovedetterforsker:
          • Siddharth Srivastava, MD
        • Underetterforsker:
          • Susan Faja, PhD
        • Underetterforsker:
          • Matthew Siegel, MD
    • New York
      • New York, New York, Forente stater, 10032
        • New York State Psychiatric Institute/Weill Cornell Medicine/Columbia University Medical Center
        • Hovedetterforsker:
          • Jeremy Veenstra-Vanderweele, MD
        • Underetterforsker:
          • William Fifer, PhD
        • Underetterforsker:
          • Zachary Grinspan, MD, MS
    • North Carolina
      • Chapel Hill, North Carolina, Forente stater, 27599
        • University of North Carolina at Chapel Hill
        • Hovedetterforsker:
          • Mark Shen, PhD
        • Underetterforsker:
          • Jessica Girault, PhD
        • Underetterforsker:
          • Gabriel Dichter, PhD
    • Ohio
      • Cincinnati, Ohio, Forente stater, 45229
        • Cincinnati Children's Hospital Medical Center
        • Hovedetterforsker:
          • Craig Erickson, MD
        • Underetterforsker:
          • Ernest Pedapati, MD, MS, FAAP
        • Underetterforsker:
          • Rebecca Schaffer, PsyD, HSPP
    • Pennsylvania
      • Philadelphia, Pennsylvania, Forente stater, 19104
        • Children's Hospital of Philadelphia/University of Pennsylvania
        • Hovedetterforsker:
          • Eric Marsh, MD, PhD
        • Underetterforsker:
          • Robert Schultz, PhD
        • Underetterforsker:
          • Amanda Bennett, MD, MPH
    • Texas
      • Houston, Texas, Forente stater, 77030
        • Baylor College of Medicine/Texas Children's Hospital
        • Underetterforsker:
          • Holly Harris, MD
        • Hovedetterforsker:
          • Jimmy Holder, MD, PhD
        • Underetterforsker:
          • Mirjana Maletic-Savatic, MD, PhD
    • Washington
      • Seattle, Washington, Forente stater, 98105
        • Seattle Children's Hospital/University of Washington
        • Hovedetterforsker:
          • Sara Webb, PhD
        • Underetterforsker:
          • Frederick Shic, PhD
        • Underetterforsker:
          • Emily Neuhaus, PhD
  • Storbritannia
      • Oxford, Storbritannia
        • University of Oxford/King's College London

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

1 sekund til 18 år (Barn, Voksen)

Tar imot friske frivillige

Nei

Kjønn som er kvalifisert for studier

Alle

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

Children and young adults with autism and related neurodevelopmental conditions

Beskrivelse

Inclusion Criteria

  • For Cohort 1: age 0-18 years with clinical documentation of a genetically-defined disorder associated with profound autism, including a pathogenic/likely pathogenic variant in ARID1B, GRIN2B, RNU4-2, SCN2A, or SLC6A1.
  • For Cohort 2: ages 2-18 years with profound autism or likely profound autism, either without previous genetic testing or previous testing that was non-diagnostic.

Exclusion Criteria

  • For Cohort 1: Aged over 18 years at enrollment.
  • For Cohort 2: Age <2 or >18 years at enrollment
  • For Cohort 2: Participants with an established genetic diagnosis for their autism on the basis of a pathogenic variant (or variants) identified in a non-target neurodevelopmental gene.
  • Primary language other than English or Spanish.
  • Treatment with an investigational drug, biological agent, or device as part of another research study, within 30 days prior to study enrollment.
  • Previous treatments involving disease-modifying therapies, such as gene therapy, antisense oligonucleotide (ASO), or a repurposed drug.

Studieplan

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

Hvordan er studiet utformet?

Designdetaljer

  • Observasjonsmodeller: COHORT
  • Tidsperspektiver: PROSPECTIVE

Kohorter og intervensjoner

Gruppe / Kohort
Cohort 1

Children and young adults (birth to 18 years) with confirmed pathogenic or likely pathogenic variants in genes strongly linked to autism, including ARID1B, GRIN2B, RNU4-2, SCN2A, SLC6A1, or other genes of interest. A formal diagnosis of profound autism is not required to participate. This group will be followed over time.
Cohort 2a

Children and young adults (2-18 years) with likely profound or profound autism without a definitive genetic cause for autism identified from whole-genome sequencing or Fragile X testing at the baseline visit. This cohort will be followed over time.
Cohort 2b

Children and young adults (2-18 years) with either 1) likely profound or profound autism with the presence of a genetic variant(s) in a gene other than one of the targeted genes of interest or another gene known to cause autism or 2) do not meet the study definition for profound/likely profound autism following baseline assessment. Meaningful genetic, clinical, and biomarker data will be collected from these participants at the baseline visit, but this cohort will not be followed over time.

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Cognition
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Cognition will be assessed using the Bayley Scales of Infant & Toddler Development-4 or the Stanford-Binet Intelligence Scales-5. The primary composite variable (40-160) will be evaluated, with higher scores indicating more advanced cognitive development.
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.
Language & Communication
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Language and communication will be assessed using the Clinical Evaluation of Language Fundamentals-5 (CELF-5) or Preschool Language Scales-5 (PLS-5). The primary composite variable (0-130 for the CELF-5, 50-150 for the PLS-5) will be evaluated, with higher scores indicating more advanced language and communication.
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.
Autism Symptoms
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Autism symptoms will be assessed using the Autism Diagnostic Observation Scales-2 (ADOS) or the Autism Observation Scale for Infants (AOSI). The primary composite variable (1-10 for the ADOS, 0-16 for the AOSI) will be evaluated, with lower scores indicating greater symptom severity.
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.
Adaptive Behavior
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Adaptive behavior will be assessed using the Vineland Adaptive Behavior Scale-3. The primary composite variable (20-140) will be evaluated, with higher scores indicating better adaptive functioning.
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.
Motor Skills
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Motor skills will be assessed using the Motor Assessment Battery for Children-3 (MABC-3) or the Peabody Developmental Motor Scales-3 (PDMS-3). The primary composite variable (0-100 for MABC-3, 50-150 for the PDMS-3) will be evaluated, with higher scores indicating more advanced motor skills.
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Sekundære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Genetic
Tidsramme: At baseline visit

Whole genome sequencing and Fragile X testing (when applicable)
At baseline visit

Andre resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Biomarkers & Quantitative Phenotyping
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

High-density research EEG
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.
Biomarkers & Quantitative Phenotyping
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Eye-tracking
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.
Biomarkers & Quantitative Phenotyping
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Quantitative video motion capture
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.
Biomarkers & Quantitative Phenotyping
Tidsramme: 0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Overnight sleep monitoring
0-2 years old: 6-month assessment at baseline, and 6, 12, 18, and 24 month follow-up visits. Participants who reach 24 months during the study move to annual assessments. 2-18 years old: annual assessment at baseline, year 1 and year 2 follow-up visits.

Samarbeidspartnere og etterforskere

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

Sponsor

Coalition for Aligning Science

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. november 2026

Primær fullføring (Antatt)

1. november 2033

Studiet fullført (Antatt)

1. november 2040

Datoer for studieregistrering

Først innsendt

3. september 2026

Først innsendt som oppfylte QC-kriteriene

6. november 2026

Først lagt ut (Faktiske)

12. november 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

12. november 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

6. november 2026

Sist bekreftet

1. november 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • IMPACT-Ready-01

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