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New hope for earlier autism diagnosis
June 2013
by Lori Lesko  |  Email the author


LEXINGTON, Mass.—Once frustrated by months of waiting for doctors to diagnose her son, Lincoln, with an autism spectrum disorder (ASD), Teri Dean has been following the progress of the largest multisite autism clinical study launched in April by SynapDx Corp. and its proprietary blood-based test designed to help doctors identify children with autism as young as 18 months old.
"We first had concerns about our son's development at 12 months," Dean says. "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."  
While children can exhibit symptoms of ASDs before 18 months, the current average age of diagnosis is 4.5 years—well past the age where behavioral therapies can be the most effective.
But if SynapDx's 660-child, 20-site clinical study holds up, parents like Dean would have access to an early diagnosis, the key to early intervention and better outcomes for toddlers trapped in a disorder characterized by impairment in language and socialization, as well as restrictive and repetitive behavior. It could also give parents hope for their children's future.  
"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," Dean says of Lincoln, who is now three years old.  
Traditionally, an ASD diagnosis is a lengthy, complicated and frustrating process for both families and clinicians, according to SynapDx. 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.
"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," says Dr. Jeremy Veenstra-VanderWeele of Vanderbilt University, one of the study's 20 clinical sites. "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."
Currently, ASDs are diagnosed using a variety of assessments that combine direct patient observation and medical history. An ASD diagnosis is often made by developmental pediatricians and other specialists using criteria spelled out in DSM-IV. In larger developmental medicine centers, children are often seen by a team of experts including developmental pediatricians, speech and hearing specialists, neurologists, psychologists, psychiatrists and occupational therapists.  
SynapDx's technology introduces an entirely new category of testing that has the potential to transform pediatrics and give parents and clinicians much-needed answers, according to Stanley Lapidus, CEO of the company.
"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," Lapidus says. "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."  
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.
SynapDx's breakthrough test works by measuring amounts of RNA that 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 and how it affects speech, behavioral and social skill development.
Conducted by clinical leaders in autism research, SynapDx's study sites include Boston Children's Hospital, Mount Sinai Medical Center, Nationwide Children's Hospital, the University of California-Davis' MIND Institute and some sites in Canada.  
SynapDx's 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.  
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.
"SynapDx has taken a very thoughtful and strategic approach to building a groundswell of support for its ASD test," says Bill Geary, partner in 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."
Code: E061314



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