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).
연구 개요
상태
상세 설명
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.
연구 유형
등록 (추정된)
연락처 및 위치
연구 연락처
- 이름: Catherine Clinton, MS, CGC
- 전화번호: 617-355-1254
- 이메일: Catherine.Clinton@childrens.harvard.edu
연구 연락처 백업
- 이름: Ekemini Riley, PhD
- 이메일: eriley@aligningscience.com
연구 장소
-
-
California
-
Los Angeles, California, 미국, 90027
- Children's Hospital Los Angeles/University of California Los Angeles
-
수석 연구원:
- Jonathan Santoro, MD
-
부수사관:
- Rajsekar Rajaraman, MD, MS
-
부수사관:
- Rujuta Wilson, MD
-
-
Colorado
-
Aurora, Colorado, 미국, 80045
- University of Colorado Anschutz Medical Campus/Children's Hospital of Colorado
-
수석 연구원:
- Timothy Benke, MD, PhD
-
부수사관:
- Scott Demarest, MD
-
부수사관:
- Nicole Tartaglia, MD
-
-
Georgia
-
Atlanta, Georgia, 미국, 30322
- Emory University/Georgia State University/Children's Healthcare of Atlanta
-
수석 연구원:
- Ami Klin, PhD
-
부수사관:
- Warren Jones, PhD
-
부수사관:
- Nathan Call, PhD, BCBA-D
-
-
Massachusetts
-
Boston, Massachusetts, 미국, 02115
- Boston Children's Hospital
-
수석 연구원:
- Siddharth Srivastava, MD
-
부수사관:
- Susan Faja, PhD
-
부수사관:
- Matthew Siegel, MD
-
-
New York
-
New York, New York, 미국, 10032
- New York State Psychiatric Institute/Weill Cornell Medicine/Columbia University Medical Center
-
수석 연구원:
- Jeremy Veenstra-Vanderweele, MD
-
부수사관:
- William Fifer, PhD
-
부수사관:
- Zachary Grinspan, MD, MS
-
-
North Carolina
-
Chapel Hill, North Carolina, 미국, 27599
- University of North Carolina at Chapel Hill
-
수석 연구원:
- Mark Shen, PhD
-
부수사관:
- Jessica Girault, PhD
-
부수사관:
- Gabriel Dichter, PhD
-
-
Ohio
-
Cincinnati, Ohio, 미국, 45229
- Cincinnati Children's Hospital Medical Center
-
수석 연구원:
- Craig Erickson, MD
-
부수사관:
- Ernest Pedapati, MD, MS, FAAP
-
부수사관:
- Rebecca Schaffer, PsyD, HSPP
-
-
Pennsylvania
-
Philadelphia, Pennsylvania, 미국, 19104
- Children's Hospital of Philadelphia/University of Pennsylvania
-
수석 연구원:
- Eric Marsh, MD, PhD
-
부수사관:
- Robert Schultz, PhD
-
부수사관:
- Amanda Bennett, MD, MPH
-
-
Texas
-
Houston, Texas, 미국, 77030
- Baylor College of Medicine/Texas Children's Hospital
-
부수사관:
- Holly Harris, MD
-
수석 연구원:
- Jimmy Holder, MD, PhD
-
부수사관:
- Mirjana Maletic-Savatic, MD, PhD
-
-
Washington
-
Seattle, Washington, 미국, 98105
- Seattle Children's Hospital/University of Washington
-
수석 연구원:
- Sara Webb, PhD
-
부수사관:
- Frederick Shic, PhD
-
부수사관:
- Emily Neuhaus, PhD
-
-
-
-
-
Oxford, 영국
- University of Oxford/King's College London
-
-
-
-
Ontario
-
East York, Ontario, 캐나다
- Holland Bloorview Rehabilitation Hospital/Hospital for Sick Children
-
수석 연구원:
- Evdokia Anagnostou, MD, FRCPC
-
부수사관:
- Stephen Scherer, PhD, DSc, FRSC
-
부수사관:
- Danielle Baribeau, MD, PhD
-
-
참여기준
자격 기준
공부할 수 있는 나이
건강한 자원 봉사자를 받아들입니다
연구 대상 성별
샘플링 방법
연구 인구
Children and young adults with autism and related neurodevelopmental conditions
설명
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.
공부 계획
연구는 어떻게 설계됩니까?
디자인 세부사항
- 관찰 모델: COHORT
- 시간 관점: PROSPECTIVE
코호트 및 개입
그룹/코호트 |
|---|
|
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. |
연구는 무엇을 측정합니까?
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
|
Cognition
기간: 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
기간: 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
기간: 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
기간: 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
기간: 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.
|
2차 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
|
Genetic
기간: At baseline visit
|
Whole genome sequencing and Fragile X testing (when applicable) |
At baseline visit
|
기타 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
|
Biomarkers & Quantitative Phenotyping
기간: 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
기간: 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
기간: 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
기간: 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.
|
공동 작업자 및 조사자
연구 기록 날짜
연구 주요 날짜
연구 시작 (추정된)
기본 완료 (추정된)
연구 완료 (추정된)
연구 등록 날짜
최초 제출
QC 기준을 충족하는 최초 제출
처음 게시됨 (실제)
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
QC 기준을 충족하는 마지막 업데이트 제출
마지막으로 확인됨
추가 정보
이 연구와 관련된 용어
키워드
추가 관련 MeSH 약관
기타 연구 ID 번호
- IMPACT-Ready-01
약물 및 장치 정보, 연구 문서
미국 FDA 규제 의약품 연구
미국 FDA 규제 기기 제품 연구
이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .