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

Posted: Published on April 24th, 2013

This post was added by Dr Simmons

LEXINGTON, Mass.--(BUSINESS WIRE)--

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 childs future. SynapDxs 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, SynapDxs study includes Boston Childrens Hospital, Mount Sinai Medical Center, Nationwide Childrens 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 SynapDxs Science

SynapDxs 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 persons 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 SynapDxs proprietary test. The test provides an ASD risk score for each child and is designed to be ordered by a physician and performed in SynapDxs lab.

Weve 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 tests 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

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

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