NIH Joins Public-Private Partnership to Fund Research on Autism Biomarkers

Government, non-profit and other private partners will fund a multi-year project to develop and improve clinical research tools for studying autism spectrum disorder (ASD). The project will receive a total of $28 million over the next four years to test and refine clinical measures of social impairment in ASD in order to better evaluate potential behavioral and drug therapies.

It is supported by the National Institutes of Health (NIH), the Foundation for the NIH (FNIH), the Simons Foundation Autism Research Initiative (SFARI), and others. NIH funding comes from the National Institute of Mental Health (NIMH), the National Institute of Neurological Disorders and Stroke, and the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

The effort is the latest addition to the prestigious list of projects supported by the Biomarkers Consortium, a large public-private partnership that aims to accelerate biomedical research progress. James McPartland Ph.D. of Yale School of Medicine, New Haven, Connecticut, serves as principal investigator.

The Consortium supports research to identify disease-specific biomarkers and develop targeted technologies and treatments. Its ultimate goal is precision medicine - an emerging approach to prevention and treatment that takes into account an individual’s disease-related variations in genes, environment, and lifestyle.

ASD is a group of neurodevelopmental disorders that affects social interaction and communication skills and can cause restricted and repetitive behaviors. Approximately 1 percent of children throughout the world have an ASD, each with his or her own unique combination of symptoms and levels of impairment. It is this extensive spectrum of symptoms and severity that has proven to be particularly challenging for clinical research.

“The heterogeneity in people with an ASD makes it imperative that we find more precisely diagnosed groups of research subjects so that we can objectively evaluate the clinical effects of an intervention,” said NIMH Director Thomas R. Insel, M.D. “This consortium project will develop reliable tools and measures that clinical researchers can use to assess potential treatments.”

McPartland and his team will conduct a multi-site study of preschool (3-5 years) and school aged (6-11 years) children, both with and without ASD, over the course of several months. Research sites include Yale University, Duke University, Durham, North Carolina, the University of California, Los Angeles, the University of Washington, Seattle, and Boston Children’s Hospital.

The research team will begin by comparing lab-based measures of domains of social impairment to commonly used, standardized clinician and caregiver assessments of social function. Specifically, they will investigate the sensitivity and reliability of these unique measures in terms of how well they indicate changes in a participant’s core social impairment symptoms over time.

The researchers will then evaluate the potential utility of eye tracking responses and measures of brain activity via electroencephalogram (EEG) as biomarkers for future clinical trials. They will investigate how these two noninvasive and relatively inexpensive biomarker measures relate to their recently validated lab-based measures of social function.

Together, these findings will lay the groundwork for ASD researchers to objectively select meaningful subgroups of children and reliably measure the clinical effects of interventions.

In addition to the behavioral measures and biomarker data, this community resource will also include blood samples from subjects and their parents for use in future genetic studies. Data and resource sharing are key components of this Consortium project.

All data generated in the project will be made available for other researchers to view and analyze through the NIH-funded National Database for Autism Research and the NIMH Repository and Genomics Resource.