New hope for earlier autism diagnosis

Largest prospective multisite autism clinical study offers promise of ASD diagnosis at 18 months

Lori Lesko
LEXINGTON, Mass.—Once frustrated by months of waiting fordoctors to diagnose her son, Lincoln, with an autism spectrum disorder (ASD),Teri Dean has been following the progress of the largest multisite autismclinical study launched in April by SynapDx Corp. and its proprietaryblood-based test designed to help doctors identify children with autism asyoung as 18 months old.
 
"We first had concerns about our son's development at 12months," Dean says. "His physician asked us to wait and see until his 15-monthappointment. At that time, we were asked to wait another month, and I calledthe very next day to get intervention started. We had lost precious months atthat point, and we still had another six months to wait until diagnosis."
 
 
While children can exhibit symptoms of ASDs before 18months, the current average age of diagnosis is 4.5 years—well past the agewhere 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 earlyintervention and better outcomes for toddlers trapped in a disordercharacterized by impairment in language and socialization, as well asrestrictive and repetitive behavior. It could also give parents hope for theirchildren's future.
 
 
"Any tool to help educate clinicians and help us startintervention earlier would have been so welcomed, and could have had a hugeimpact on our son's progress," Dean says of Lincoln, who is now three yearsold.
 
 
Traditionally, an ASD diagnosis is a lengthy, complicatedand frustrating process for both families and clinicians, according to SynapDx.Because of the large number of children needing evaluation, wait times to seespecialists can be months to a year. When coupled with the time required tocomplete a full evaluation, families endure significant costs and months toyears of fear and uncertainty about their child.
 
"Treatment for autism is most effective when the disorder isidentified as early as possible, but it is often difficult for families andphysicians to distinguish the early signs of ASD that should lead to a fullevaluation," says Dr. Jeremy Veenstra-VanderWeele of Vanderbilt University, oneof the study's 20 clinical sites. "We see hundreds of families each year whohave struggled through the ASD referral and evaluation process. If a blood testcould indicate ASD risk, it would help families and physicians know when torefer children to an ASD expert."
 
Currently, ASDs are diagnosed using a variety of assessmentsthat combine direct patient observation and medical history. An ASD diagnosisis often made by developmental pediatricians and other specialists usingcriteria spelled out in DSM-IV. In larger developmental medicine centers,children are often seen by a team of experts including developmentalpediatricians, speech and hearing specialists, neurologists, psychologists,psychiatrists and occupational therapists.
 
 
SynapDx's technology introduces an entirely new category oftesting that has the potential to transform pediatrics and give parents andclinicians much-needed answers, according to Stanley Lapidus, CEO of thecompany.
 
"We've spent the past three years collaborating with expertsto optimize our approach and demonstrate that RNA expression analysis is thekey to transforming the ASD diagnostic process," Lapidus says. "This study isthe next crucial step in evaluating our test's potential to give clinicians andparents the answers they need to make appropriate treatmentdecisions—sooner—for children with ASD."
 
 
While there is not one specific gene that determines whetheror not a child has ASD, researchers have found that children with autism havedifferent amounts of certain RNA sequences. Measuring this unique pattern ofRNA differences forms the basis of SynapDx's proprietary test. The testprovides an ASD risk score for each child and is designed to be ordered by aphysician and performed in SynapDx's lab.
 
SynapDx's breakthrough test works by measuring amounts ofRNA that are copied from each of many different genes. Those amounts of RNA areinfluenced by a person's genes and environment. For each gene, the amount ofRNA copied determines how much protein is made. The RNA and resulting proteinsdictate many functions in the body, including how the brain develops and how itaffects speech, behavioral and social skill development.
 
Conducted by clinical leaders in autism research, SynapDx'sstudy sites include Boston Children's Hospital, Mount Sinai Medical Center,Nationwide Children's Hospital, the University of California-Davis' MINDInstitute and some sites in Canada.
 
 
SynapDx's proprietary approach has also been supported bystudies recently published in PLOS Oneby researchers at Children's Hospital Boston and another by researchers collaboratingat the University of California-San Diego and SUNY Syracuse in the Journalof the Academy of Adolescent and Child Psychiatry.
 
 
Since December 2012, SynapDx has raised more than $9 millionin funding from various investors and collaborators, including North BridgeVenture Partners, General Catalyst Partners, Laboratory Corporation of Americaand the Kraft Group. SynapDx also recently announced a strategic alliance withnext-generation sequencing pioneer Illumina, on whose platform SynapDx'sclinical study will be run. The clinical study is a key milestone in thecompany's next phase of growth.
 
"SynapDx has taken a very thoughtful and strategic approachto building a groundswell of support for its ASD test," says Bill Geary,partner in North Bridge Venture Partners. "With autism one of the mostsignificant health concerns of today, the launch of SynapDx's clinical study isnot only a key milestone for the company, but for the healthcare industry atlarge."

Lori Lesko

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