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).
Przegląd badań
Status
Status
Warunki
Warunki
Szczegółowy opis
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.
Typ studiów
Typ studiów
Zapisy (Szacowany)
Zapisy
Kontakty i lokalizacje
Kontakt w sprawie studiów
Kontakt w sprawie studiów
- Nazwa: Catherine Clinton, MS, CGC
- Numer telefonu: 617-355-1254
- E-mail: Catherine.Clinton@childrens.harvard.edu
Kopia zapasowa kontaktu do badania
- Nazwa: Ekemini Riley, PhD
- E-mail: eriley@aligningscience.com
Lokalizacje studiów
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Ontario
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East York, Ontario, Kanada
- Holland Bloorview Rehabilitation Hospital/Hospital for Sick Children
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Główny śledczy:
- Evdokia Anagnostou, MD, FRCPC
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Pod-śledczy:
- Stephen Scherer, PhD, DSc, FRSC
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Pod-śledczy:
- Danielle Baribeau, MD, PhD
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California
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Los Angeles, California, Stany Zjednoczone, 90027
- Children's Hospital Los Angeles/University of California Los Angeles
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Główny śledczy:
- Jonathan Santoro, MD
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Pod-śledczy:
- Rajsekar Rajaraman, MD, MS
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Pod-śledczy:
- Rujuta Wilson, MD
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Colorado
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Aurora, Colorado, Stany Zjednoczone, 80045
- University of Colorado Anschutz Medical Campus/Children's Hospital of Colorado
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Główny śledczy:
- Timothy Benke, MD, PhD
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Pod-śledczy:
- Scott Demarest, MD
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Pod-śledczy:
- Nicole Tartaglia, MD
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Georgia
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Atlanta, Georgia, Stany Zjednoczone, 30322
- Emory University/Georgia State University/Children's Healthcare of Atlanta
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Główny śledczy:
- Ami Klin, PhD
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Pod-śledczy:
- Warren Jones, PhD
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Pod-śledczy:
- Nathan Call, PhD, BCBA-D
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Massachusetts
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Boston, Massachusetts, Stany Zjednoczone, 02115
- Boston Children's Hospital
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Główny śledczy:
- Siddharth Srivastava, MD
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Pod-śledczy:
- Susan Faja, PhD
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Pod-śledczy:
- Matthew Siegel, MD
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New York
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New York, New York, Stany Zjednoczone, 10032
- New York State Psychiatric Institute/Weill Cornell Medicine/Columbia University Medical Center
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Główny śledczy:
- Jeremy Veenstra-Vanderweele, MD
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Pod-śledczy:
- William Fifer, PhD
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Pod-śledczy:
- Zachary Grinspan, MD, MS
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North Carolina
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Chapel Hill, North Carolina, Stany Zjednoczone, 27599
- University of North Carolina at Chapel Hill
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Główny śledczy:
- Mark Shen, PhD
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Pod-śledczy:
- Jessica Girault, PhD
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Pod-śledczy:
- Gabriel Dichter, PhD
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Ohio
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Cincinnati, Ohio, Stany Zjednoczone, 45229
- Cincinnati Children's Hospital Medical Center
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Główny śledczy:
- Craig Erickson, MD
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Pod-śledczy:
- Ernest Pedapati, MD, MS, FAAP
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Pod-śledczy:
- Rebecca Schaffer, PsyD, HSPP
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Pennsylvania
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Philadelphia, Pennsylvania, Stany Zjednoczone, 19104
- Children's Hospital of Philadelphia/University of Pennsylvania
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Główny śledczy:
- Eric Marsh, MD, PhD
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Pod-śledczy:
- Robert Schultz, PhD
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Pod-śledczy:
- Amanda Bennett, MD, MPH
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Texas
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Houston, Texas, Stany Zjednoczone, 77030
- Baylor College of Medicine/Texas Children's Hospital
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Pod-śledczy:
- Holly Harris, MD
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Główny śledczy:
- Jimmy Holder, MD, PhD
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Pod-śledczy:
- Mirjana Maletic-Savatic, MD, PhD
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Washington
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Seattle, Washington, Stany Zjednoczone, 98105
- Seattle Children's Hospital/University of Washington
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Główny śledczy:
- Sara Webb, PhD
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Pod-śledczy:
- Frederick Shic, PhD
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Pod-śledczy:
- Emily Neuhaus, PhD
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Oxford, Zjednoczone Królestwo
- University of Oxford/King's College London
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Kryteria uczestnictwa
Kryteria kwalifikacji
Kryteria kwalifikacji
Wiek uprawniający do nauki
Akceptuje zdrowych ochotników
Płeć kwalifikująca się do nauki
Metoda próbkowania
Badana populacja
Children and young adults with autism and related neurodevelopmental conditions
Opis
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 studiów
Jak projektuje się badanie?
Szczegóły projektu
- Modele obserwacyjne: COHORT
- Perspektywy czasowe: PROSPECTIVE
Liczba grup / kohort
Kohorty i interwencje
Grupa / KohortaGrupa / Kohorta |
|---|
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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. |
|
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. |
Co mierzy badanie?
Podstawowe miary wyniku
Podstawowe miary wyniku
Miara wyniku |
Opis środka |
Ramy czasowe |
|---|---|---|
|
Cognition
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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.
|
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Motor Skills
Ramy czasowe: 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.
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Miary wyników drugorzędnych
Miary wyników drugorzędnych
Miara wyniku |
Opis środka |
Ramy czasowe |
|---|---|---|
|
Genetic
Ramy czasowe: At baseline visit
|
Whole genome sequencing and Fragile X testing (when applicable) |
At baseline visit
|
Inne miary wyników
Inne miary wyników
Miara wyniku |
Opis środka |
Ramy czasowe |
|---|---|---|
|
Biomarkers & Quantitative Phenotyping
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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.
|
Współpracownicy i badacze
Sponsor
Sponsor
Daty zapisu na studia
Główne daty studiów
Rozpoczęcie studiów (Szacowany)
Rozpoczęcie studiów
Zakończenie podstawowe (Szacowany)
Zakończenie podstawowe
Ukończenie studiów (Szacowany)
Ukończenie studiów
Daty rejestracji na studia
Pierwszy przesłany
Pierwszy przesłany
Pierwszy przesłany, który spełnia kryteria kontroli jakości
Pierwszy przesłany, który spełnia kryteria kontroli jakości
Pierwszy wysłany (Rzeczywisty)
Pierwszy wysłany
Aktualizacje rekordów badań
Ostatnia wysłana aktualizacja (Rzeczywisty)
Ostatnia wysłana aktualizacja
Ostatnia przesłana aktualizacja, która spełniała kryteria kontroli jakości
Ostatnia przesłana aktualizacja, która spełniała kryteria kontroli jakości
Ostatnia weryfikacja
Ostatnia weryfikacja
Więcej informacji
Terminy związane z tym badaniem
Słowa kluczowe
Dodatkowe istotne warunki MeSH
Inne numery identyfikacyjne badania
Inne numery identyfikacyjne badania
- IMPACT-Ready-01
Informacje o lekach i urządzeniach, dokumenty badawcze
Bada produkt leczniczy regulowany przez amerykańską FDA
Bada produkt urządzenia regulowany przez amerykańską FDA
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