IMPACT-Ready Study
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).
調査の概要
状態
状態
条件
条件
詳細な説明
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.
研究の種類
研究の種類
入学 (推定)
入学
連絡先と場所
研究連絡先
研究連絡先
- 名前:Catherine Clinton, MS, CGC
- 電話番号:617-355-1254
- メール:Catherine.Clinton@childrens.harvard.edu
研究連絡先のバックアップ
- 名前:Ekemini Riley, PhD
- メール:eriley@aligningscience.com
研究場所
-
-
California
-
Los Angeles、California、アメリカ、90027
- Children's Hospital Los Angeles/University of California Los Angeles
-
主任研究者:
- Jonathan Santoro, MD
-
副調査官:
- Rajsekar Rajaraman, MD, MS
-
副調査官:
- Rujuta Wilson, MD
-
-
Colorado
-
Aurora、Colorado、アメリカ、80045
- University of Colorado Anschutz Medical Campus/Children's Hospital of Colorado
-
主任研究者:
- Timothy Benke, MD, PhD
-
副調査官:
- Scott Demarest, MD
-
副調査官:
- Nicole Tartaglia, MD
-
-
Georgia
-
Atlanta、Georgia、アメリカ、30322
- Emory University/Georgia State University/Children's Healthcare of Atlanta
-
主任研究者:
- Ami Klin, PhD
-
副調査官:
- Warren Jones, PhD
-
副調査官:
- Nathan Call, PhD, BCBA-D
-
-
Massachusetts
-
Boston、Massachusetts、アメリカ、02115
- Boston Children's Hospital
-
主任研究者:
- Siddharth Srivastava, MD
-
副調査官:
- Susan Faja, PhD
-
副調査官:
- Matthew Siegel, MD
-
-
New York
-
New York、New York、アメリカ、10032
- New York State Psychiatric Institute/Weill Cornell Medicine/Columbia University Medical Center
-
主任研究者:
- Jeremy Veenstra-Vanderweele, MD
-
副調査官:
- William Fifer, PhD
-
副調査官:
- Zachary Grinspan, MD, MS
-
-
North Carolina
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Chapel Hill、North Carolina、アメリカ、27599
- University of North Carolina at Chapel Hill
-
主任研究者:
- Mark Shen, PhD
-
副調査官:
- Jessica Girault, PhD
-
副調査官:
- Gabriel Dichter, PhD
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Ohio
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Cincinnati、Ohio、アメリカ、45229
- Cincinnati Children's Hospital Medical Center
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主任研究者:
- Craig Erickson, MD
-
副調査官:
- Ernest Pedapati, MD, MS, FAAP
-
副調査官:
- Rebecca Schaffer, PsyD, HSPP
-
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Pennsylvania
-
Philadelphia、Pennsylvania、アメリカ、19104
- Children's Hospital of Philadelphia/University of Pennsylvania
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主任研究者:
- Eric Marsh, MD, PhD
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副調査官:
- Robert Schultz, PhD
-
副調査官:
- Amanda Bennett, MD, MPH
-
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Texas
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Houston、Texas、アメリカ、77030
- Baylor College of Medicine/Texas Children's Hospital
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副調査官:
- Holly Harris, MD
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主任研究者:
- Jimmy Holder, MD, PhD
-
副調査官:
- Mirjana Maletic-Savatic, MD, PhD
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Washington
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Seattle、Washington、アメリカ、98105
- Seattle Children's Hospital/University of Washington
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主任研究者:
- Sara Webb, PhD
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副調査官:
- Frederick Shic, PhD
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副調査官:
- Emily Neuhaus, PhD
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-
-
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Oxford、イギリス
- University of Oxford/King's College London
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-
-
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Ontario
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East York、Ontario、カナダ
- Holland Bloorview Rehabilitation Hospital/Hospital for Sick Children
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主任研究者:
- Evdokia Anagnostou, MD, FRCPC
-
副調査官:
- Stephen Scherer, PhD, DSc, FRSC
-
副調査官:
- Danielle Baribeau, MD, PhD
-
-
参加基準
適格基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
サンプリング方法
調査対象母集団
Children and young adults with autism and related neurodevelopmental conditions
説明
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.
研究計画
研究はどのように設計されていますか?
デザインの詳細
- 観測モデル:COHORT
- 時間の展望:PROSPECTIVE
グループ/コホートの数
コホートと介入
グループ/コホートグループ/コホート |
|---|
|
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. |
この研究は何を測定していますか?
主要な結果の測定
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
Cognition
時間枠: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
時間枠: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
時間枠: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
時間枠: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
時間枠: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.
|
二次結果の測定
二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
Genetic
時間枠:At baseline visit
|
Whole genome sequencing and Fragile X testing (when applicable) |
At baseline visit
|
その他の成果指標
その他の成果指標
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
Biomarkers & Quantitative Phenotyping
時間枠: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
時間枠: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
時間枠: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
時間枠: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.
|
協力者と研究者
研究記録日
主要日程の研究
研究開始 (推定)
研究開始
一次修了 (推定)
一次修了
研究の完了 (推定)
研究の完了
試験登録日
最初に提出
最初に提出
QC基準を満たした最初の提出物
QC基準を満たした最初の提出物
最初の投稿 (実際)
最初の投稿
学習記録の更新
投稿された最後の更新 (実際)
投稿された最後の更新
QC基準を満たした最後の更新が送信されました
QC基準を満たした最後の更新が送信されました
最終確認日
最終確認日
詳しくは
本研究に関する用語
キーワード
追加の関連 MeSH 用語
その他の研究ID番号
その他の研究ID番号
- IMPACT-Ready-01
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
米国FDA規制機器製品の研究
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