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IMPACT-Ready Study

6 ноября 2026 г. обновлено: 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).

Обзор исследования

Статус

Еще не набирают

Условия

Подробное описание

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.

Тип исследования

Наблюдательный

Регистрация (Оцененный)

1250

Контакты и местонахождение

В этом разделе приведены контактные данные лиц, проводящих исследование, и информация о том, где проводится это исследование.

Контакты исследования

Учебное резервное копирование контактов

Места учебы

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

Критерии участия

Исследователи ищут людей, которые соответствуют определенному описанию, называемому критериям приемлемости. Некоторыми примерами этих критериев являются общее состояние здоровья человека или предшествующее лечение.

Критерии приемлемости

Возраст, подходящий для обучения

От 1 секунда до 18 лет (Ребенок, Взрослый)

Принимает здоровых добровольцев

Нет

Полы, имеющие право на обучение

Все

Метод выборки

Невероятностная выборка

Исследуемая популяция

Children and young adults with autism and related neurodevelopmental conditions

Описание

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.

Учебный план

В этом разделе представлена ​​подробная информация о плане исследования, в том числе о том, как планируется исследование и что оно измеряет.

Как устроено исследование?

Детали дизайна

  • Наблюдательные модели: COHORT
  • Временные перспективы: PROSPECTIVE

Когорты и вмешательства

Группа / когорта
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.

Что измеряет исследование?

Первичные показатели результатов

Мера результата
Мера Описание
Временное ограничение
Cognition
Временное ограничение: 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
Временное ограничение: 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
Временное ограничение: 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
Временное ограничение: 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
Временное ограничение: 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.

Вторичные показатели результатов

Мера результата
Мера Описание
Временное ограничение
Genetic
Временное ограничение: At baseline visit

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

Другие показатели результатов

Мера результата
Мера Описание
Временное ограничение
Biomarkers & Quantitative Phenotyping
Временное ограничение: 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
Временное ограничение: 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
Временное ограничение: 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
Временное ограничение: 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.

Соавторы и исследователи

Здесь вы найдете людей и организации, участвующие в этом исследовании.

Спонсор

Coalition for Aligning Science

Даты записи исследования

Эти даты отслеживают ход отправки отчетов об исследованиях и сводных результатов на сайт ClinicalTrials.gov. Записи исследований и сообщаемые результаты проверяются Национальной медицинской библиотекой (NLM), чтобы убедиться, что они соответствуют определенным стандартам контроля качества, прежде чем публиковать их на общедоступном веб-сайте.

Изучение основных дат

Начало исследования (Оцененный)

1 ноября 2026 г.

Первичное завершение (Оцененный)

1 ноября 2033 г.

Завершение исследования (Оцененный)

1 ноября 2040 г.

Даты регистрации исследования

Первый отправленный

3 сентября 2026 г.

Впервые представлено, что соответствует критериям контроля качества

6 ноября 2026 г.

Первый опубликованный (Действительный)

12 ноября 2026 г.

Обновления учебных записей

Последнее опубликованное обновление (Действительный)

12 ноября 2026 г.

Последнее отправленное обновление, отвечающее критериям контроля качества

6 ноября 2026 г.

Последняя проверка

1 ноября 2026 г.

Дополнительная информация

Термины, связанные с этим исследованием

Ключевые слова

Дополнительные соответствующие термины MeSH

Другие идентификационные номера исследования

  • IMPACT-Ready-01

Информация о лекарствах и устройствах, исследовательские документы

Изучает лекарственный продукт, регулируемый FDA США.

Нет

Изучает продукт устройства, регулируемый Управлением по санитарному надзору за качеством пищевых продуктов и медикаментов США.

Нет

Эта информация была получена непосредственно с веб-сайта clinicaltrials.gov без каких-либо изменений. Если у вас есть запросы на изменение, удаление или обновление сведений об исследовании, обращайтесь по адресу register@clinicaltrials.gov. Как только изменение будет реализовано на clinicaltrials.gov, оно будет автоматически обновлено и на нашем веб-сайте. .

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