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IMPACT-Ready Study

6 november 2026 uppdaterad 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).

Studieöversikt

Status

Har inte rekryterat ännu

Betingelser

Detaljerad beskrivning

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.

Studietyp

Observationell

Inskrivning (Beräknad)

1250

Kontakter och platser

Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.

Studiekontakt

Studera Kontakt Backup

Studieorter

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

Deltagandekriterier

Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.

Urvalskriterier

Åldrar som är berättigade till studier

1 sekund till 18 år (Barn, Vuxen)

Tar emot friska volontärer

Nej

Kön som är behöriga för studier

Allt

Testmetod

Icke-sannolikhetsprov

Studera befolkning

Children and young adults with autism and related neurodevelopmental conditions

Beskrivning

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

Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.

Hur är studien utformad?

Designdetaljer

  • Observationsmodeller: COHORT
  • Tidsperspektiv: PROSPECTIVE

Kohorter och interventioner

Grupp / 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.

Vad mäter studien?

Primära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Cognition
Tidsram: 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
Tidsram: 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
Tidsram: 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
Tidsram: 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
Tidsram: 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.

Sekundära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Genetic
Tidsram: At baseline visit

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

Andra resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Biomarkers & Quantitative Phenotyping
Tidsram: 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
Tidsram: 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
Tidsram: 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
Tidsram: 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.

Samarbetspartners och utredare

Det är här du hittar personer och organisationer som är involverade i denna studie.

Sponsor

Coalition for Aligning Science

Studieavstämningsdatum

Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.

Studera stora datum

Studiestart (Beräknad)

1 november 2026

Primärt slutförande (Beräknad)

1 november 2033

Avslutad studie (Beräknad)

1 november 2040

Studieregistreringsdatum

Först inskickad

3 september 2026

Först inskickad som uppfyllde QC-kriterierna

6 november 2026

Första postat (Faktisk)

12 november 2026

Uppdateringar av studier

Senaste uppdatering publicerad (Faktisk)

12 november 2026

Senaste inskickade uppdateringen som uppfyllde QC-kriterierna

6 november 2026

Senast verifierad

1 november 2026

Mer information

Termer relaterade till denna studie

Nyckelord

Ytterligare relevanta MeSH-villkor

Andra studie-ID-nummer

  • IMPACT-Ready-01

Läkemedels- och apparatinformation, studiedokument

Studerar en amerikansk FDA-reglerad läkemedelsprodukt

Nej

Studerar en amerikansk FDA-reglerad produktprodukt

Nej

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