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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.

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Wed Apr 24, 2013 8:30am EDT

Largest Prospective Multi-Site Autism Clinical Study Offers Promise of Earlier Diagnosis for Improved Outcomes

SynapDx Corporation Evaluates Blood-based Autism Test Designed to Enable Clinicians and Parents to Make Faster, Better Referral and Treatment Decisions

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. Today, SynapDx Corporation launched a 660-child, 20-site clinical study focused on the evaluation of its proprietary blood-based test designed to help doctors identify children with autism earlier than they do today.

Traditionally, ASD diagnosis can be a lengthy, complicated and frustrating process for both families and clinicians. Because of the large number of children needing evaluation, wait times to see specialists can be months to a year. When coupled with the time required to complete a full evaluation, families endure significant costs and months to years of fear and uncertainty about their child’s future. SynapDx’s proprietary blood test measures differences in RNA gene expression to provide families with an objective ASD risk score for their child to help clinicians make faster, more accurate referral decisions.

Conducted by clinical leaders in autism research, SynapDx’s study includes Boston Children’s Hospital, Mount Sinai Medical Center, Nationwide Children’s Hospital, UC Davis MIND Institute and Vanderbilt University, among 20 sites in the U.S. and Canada.

“Treatment for autism is most effective when the disorder is identified as early as possible, but it is often difficult for families and physicians to distinguish the early signs of ASD that should lead to a full evaluation,” said Jeremy Veenstra-VanderWeele, M.D., Vanderbilt University. “We see hundreds of families each year who have struggled through the ASD referral and evaluation process. If a blood test could indicate ASD risk, it would help families and physicians know when to refer children to an ASD expert, potentially leading to earlier treatment and better outcomes.”

Determining ASD Risk Through RNA Expression: The Key to SynapDx’s Science

SynapDx’s breakthrough test works by measuring amounts of RNA which are copied from each of many different genes. Those amounts of RNA are influenced by a person’s genes and environment. For each gene, the amount of RNA copied determines how much protein is made. The RNA and resulting proteins dictate many functions in the body, including how the brain develops, effecting 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 provides an ASD risk score for each child and is designed to be ordered by a physician and performed in SynapDx’s lab.

“We’ve spent the past three years collaborating with experts to optimize our approach and demonstrate that RNA expression analysis is the key to transforming the ASD diagnostic process,” said 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.”

Earlier Autism Referral Relieves Families and Allows Earlier Treatment

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 first had concerns about our son's development at 12 months. His physician asked us to wait and see until his 15 month appointment. At that time, we were asked to wait another month, and I called the very next day to get intervention started. We had lost precious months at that point, and we still had another six months to wait until diagnosis,” said Teri Dean, mother of Lincoln, age 3.5 years. “Any tool to help educate clinicians and help us start intervention earlier would have been so welcomed, and could have had a huge impact on our son's progress.”

SynapDx Leads Autism Diagnosis Innovation

Since December 2012, SynapDx has raised more than $9 million in funding from various investors and collaborators, including North Bridge Venture Partners, General Catalyst Partners, Laboratory Corporation of America and The Kraft Group. SynapDx also recently announced a strategic alliance with next-generation sequencing pioneer Illumina, on whose platform SynapDx’s clinical study will be run. The clinical study is a key milestone in the company’s next phase of growth.

Its proprietary approach has also been supported by studies recently published in PLOS ONE by researchers at Children’s Hospital Boston and another by researchers collaborating at the University of California San Diego and SUNY Syracuse in The Journal of the Academy of Adolescent and Child Psychiatry.

“SynapDx has taken a very thoughtful and strategic approach to building a groundswell of support for its ASD test,” said Bill Geary, Partner, North Bridge Venture Partners. “With autism one of the most significant health concerns of today, the launch of SynapDx’s clinical study is not only a key milestone for the company, but for the healthcare industry at large.”

Additional Resources

List of clinical sites
Study information on and
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About SynapDx Corp.

SynapDx is a private company developing laboratory diagnostic services for autism and neurodevelopmental disorders, with the initial goal of enabling earlier detection of autism spectrum disorders (ASDs). The company collaborates with ASD experts at leading institutions. SynapDx was founded in 2010 and is based in Lexington, Mass. SynapDx’s investors include North Bridge Venture Partners, General Catalyst Partners, LabCorp and The Kraft Group.

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