Not yet taking people in United StatesNo phase

IMPACT-Ready Study

Key facts

Who runs it: Coalition for Aligning Science
Where: Atlanta, Aurora, Boston, Chapel Hill, Cincinnati, Houston, Los Angeles, New York, Philadelphia, and Seattle, United StatesSee the 10 sitesAlso in 2 other countries, 2 sites
Trial code: NCT07931690
Status: Not yet recruiting
People taking part: 1,250 people, planned
Started: Nov 2026
Expected to end: Nov 2040
Type of study: Observational, 3 groups
Record updated: 12 November 2026

Who can take part

Age: 0 years to 18 years
Sex: Women and men
Healthy volunteers: Cannot take part

The registry criteria, word for word

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Who can take part

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

Who cannot take part

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
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

Check if you might fit

Answer for yourself. This is not a decision: only the study team can say whether you can take part.

Are you between 0 and 18 years old?

Where in United States

Also in 2 other countries, 2 sites

Emory University/Georgia State University/Children's Healthcare of AtlantaAtlanta, United StatesContact: Ami Klin, PhD (principal investigator)No longer taking part
University of Colorado Anschutz Medical Campus/Children's Hospital of ColoradoAurora, United StatesContact: Timothy Benke, MD, PhD (principal investigator)No longer taking part
Boston Children's HospitalBoston, United StatesContact: Siddharth Srivastava, MD (principal investigator)No longer taking part
University of North Carolina at Chapel HillChapel Hill, United StatesContact: Mark Shen, PhD (principal investigator)No longer taking part
Cincinnati Children's Hospital Medical CenterCincinnati, United StatesContact: Craig Erickson, MD (principal investigator)No longer taking part
Baylor College of Medicine/ Texas Children's HospitalHouston, United StatesContact: Jimmy Holder, MD, PhD (principal investigator)No longer taking part
Children's Hospital Los Angeles/University of California Los AngelesLos Angeles, United StatesContact: Jonathan Santoro, MD (principal investigator)No longer taking part
New York State Psychiatric Institute/Weill Cornell Medicine/Columbia University Medical CenterNew York, United StatesContact: Jeremy Veenstra-Vanderweele, MD (principal investigator)No longer taking part
Children's Hospital of Philadelphia & University of PennsylvaniaPhiladelphia, United StatesContact: Eric Marsh, MD, PhD (principal investigator)No longer taking part
Seattle Children's Hospital; University of WashingtonSeattle, United StatesContact: Sara Webb, PhD (principal investigator)No longer taking part

About the trial

What the trial wants to find out

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).

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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).

The 3 groups in the trial

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.