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Autism trial studies blood-based test for genetic risk factors

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Holly Korschun

A new blood test that could identify children at risk of autism spectrum disorders (ASDs) at a very early age is the subject of a multi-site clinical trial including Emory University School of Medicine and 19 other centers in the United States and Canada. The test, which measures changes in RNA gene expression, will be evaluated for the way in which it corresponds to current measures of clinical diagnosis.

While children can exhibit symptoms of autism spectrum disorders (ASDs) before 18 months, the current average age of diagnosis is 4.5 years – well past the age where behavioral therapies can begin. SynapDX Corporation will lead the 660-child, 20-site clinical study focused on the evaluation of its blood-based test.

"Currently, autism spectrum disorders are diagnosed based on psychometric assessments and medical history. The addition of a blood test will help with earlier diagnosis as well as distinguishing between autism and other developmental disabilities," says Jeannie Visootsak, associate professor of human genetics and the principal investigator for the Emory site. "Earlier diagnosis will help the child receive treatment specific to his or her needs, which may improve long-term outcomes."

SynapDx's test works by measuring amounts of RNA that are copied from each of many different genes and that determine how much protein is made. The RNA and resulting proteins dictate many functions in the body, including how the brain develops — affecting speech, behavioral and social skill development.

While there is not one specific gene that determines whether or not a child has ASD, researchers have found that children with autism have different amounts of certain RNA sequences. Measuring this unique pattern of RNA differences forms the basis of SynapDx's proprietary test. The test is designed to be ordered by a physician and to provide an ASD risk score for each child, not a definitive positive or negative result.

ASDs are typically diagnosed through a variety of assessments that combine direct patient observation and medical history. Guided by results from SynapDx's test, the evaluation process could begin sooner and reduce parents' stress, confusion and worry.

"We've spent the past three years collaborating with experts to refine our approach and demonstrate that RNA expression analysis is the key to transforming the ASD diagnostic process," says Stanley Lapidus, CEO, SynapDx. "This study is the next crucial step in evaluating our test's potential to give clinicians and parents the answers they need to make appropriate treatment decisions – sooner – for children with ASD."

For more information about the study at Emory, contact Meagan Smith, MS, genetic counselor, at 404-778-8528, or

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