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).
Descripción general del estudio
Estado
Descripción detallada
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.
Tipo de estudio
Inscripción (Estimado)
Contactos y Ubicaciones
Estudio Contacto
- Nombre: Catherine Clinton, MS, CGC
- Número de teléfono: 617-355-1254
- Correo electrónico: Catherine.Clinton@childrens.harvard.edu
Copia de seguridad de contactos de estudio
- Nombre: Ekemini Riley, PhD
- Correo electrónico: eriley@aligningscience.com
Ubicaciones de estudio
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Ontario
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East York, Ontario, Canadá
- Holland Bloorview Rehabilitation Hospital/Hospital for Sick Children
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Investigador principal:
- Evdokia Anagnostou, MD, FRCPC
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Sub-Investigador:
- Stephen Scherer, PhD, DSc, FRSC
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Sub-Investigador:
- Danielle Baribeau, MD, PhD
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California
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Los Angeles, California, Estados Unidos, 90027
- Children's Hospital Los Angeles/University of California Los Angeles
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Investigador principal:
- Jonathan Santoro, MD
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Sub-Investigador:
- Rajsekar Rajaraman, MD, MS
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Sub-Investigador:
- Rujuta Wilson, MD
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Colorado
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Aurora, Colorado, Estados Unidos, 80045
- University of Colorado Anschutz Medical Campus/Children's Hospital of Colorado
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Investigador principal:
- Timothy Benke, MD, PhD
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Sub-Investigador:
- Scott Demarest, MD
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Sub-Investigador:
- Nicole Tartaglia, MD
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Georgia
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Atlanta, Georgia, Estados Unidos, 30322
- Emory University/Georgia State University/Children's Healthcare of Atlanta
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Investigador principal:
- Ami Klin, PhD
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Sub-Investigador:
- Warren Jones, PhD
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Sub-Investigador:
- Nathan Call, PhD, BCBA-D
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Massachusetts
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Boston, Massachusetts, Estados Unidos, 02115
- Boston Children's Hospital
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Investigador principal:
- Siddharth Srivastava, MD
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Sub-Investigador:
- Susan Faja, PhD
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Sub-Investigador:
- Matthew Siegel, MD
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New York
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New York, New York, Estados Unidos, 10032
- New York State Psychiatric Institute/Weill Cornell Medicine/Columbia University Medical Center
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Investigador principal:
- Jeremy Veenstra-Vanderweele, MD
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Sub-Investigador:
- William Fifer, PhD
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Sub-Investigador:
- Zachary Grinspan, MD, MS
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North Carolina
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Chapel Hill, North Carolina, Estados Unidos, 27599
- University of North Carolina at Chapel Hill
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Investigador principal:
- Mark Shen, PhD
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Sub-Investigador:
- Jessica Girault, PhD
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Sub-Investigador:
- Gabriel Dichter, PhD
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Ohio
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Cincinnati, Ohio, Estados Unidos, 45229
- Cincinnati Children's Hospital Medical Center
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Investigador principal:
- Craig Erickson, MD
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Sub-Investigador:
- Ernest Pedapati, MD, MS, FAAP
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Sub-Investigador:
- Rebecca Schaffer, PsyD, HSPP
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Pennsylvania
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Philadelphia, Pennsylvania, Estados Unidos, 19104
- Children's Hospital of Philadelphia/University of Pennsylvania
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Investigador principal:
- Eric Marsh, MD, PhD
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Sub-Investigador:
- Robert Schultz, PhD
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Sub-Investigador:
- Amanda Bennett, MD, MPH
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Texas
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Houston, Texas, Estados Unidos, 77030
- Baylor College of Medicine/Texas Children's Hospital
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Sub-Investigador:
- Holly Harris, MD
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Investigador principal:
- Jimmy Holder, MD, PhD
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Sub-Investigador:
- Mirjana Maletic-Savatic, MD, PhD
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Washington
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Seattle, Washington, Estados Unidos, 98105
- Seattle Children's Hospital/University of Washington
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Investigador principal:
- Sara Webb, PhD
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Sub-Investigador:
- Frederick Shic, PhD
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Sub-Investigador:
- Emily Neuhaus, PhD
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Oxford, Reino Unido
- University of Oxford/King's College London
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Método de muestreo
Población de estudio
Children and young adults with autism and related neurodevelopmental conditions
Descripción
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.
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Modelos observacionales: COHORT
- Perspectivas temporales: PROSPECTIVE
Cohortes e Intervenciones
Grupo / Cohorte |
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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. |
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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. |
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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. |
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Cognition
Periodo de tiempo: 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.
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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.
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Language & Communication
Periodo de tiempo: 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.
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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.
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Autism Symptoms
Periodo de tiempo: 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.
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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.
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Adaptive Behavior
Periodo de tiempo: 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.
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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.
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Motor Skills
Periodo de tiempo: 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.
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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.
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Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Genetic
Periodo de tiempo: At baseline visit
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Whole genome sequencing and Fragile X testing (when applicable) |
At baseline visit
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Otras medidas de resultado
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Biomarkers & Quantitative Phenotyping
Periodo de tiempo: 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.
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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.
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Biomarkers & Quantitative Phenotyping
Periodo de tiempo: 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.
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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.
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Biomarkers & Quantitative Phenotyping
Periodo de tiempo: 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.
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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.
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Biomarkers & Quantitative Phenotyping
Periodo de tiempo: 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.
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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.
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Colaboradores e Investigadores
Patrocinador
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Estimado)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Palabras clave
Términos MeSH relevantes adicionales
Otros números de identificación del estudio
- IMPACT-Ready-01
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
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