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SynapDx Corp., Illumina join hands
LEXINGTON, Mass.—SynapDx Corp. and Illumina Inc. have joined hands to develop blood-based tests for an autism diagnosis as early as 19 months—or younger.
The ambitious joint venture combines SynapDx's proprietary autism technologies with San Diego-based Illumina's sequencing platform, according to a March 6 press release. The companies are also using their joint expertise to broadly evaluate other diagnostic opportunities in neurodevelopment.
"SynapDx and Illumina share a vision of better pediatric care through the use of advanced molecular assays and sequencing technologies," stated Stanley Lapidus, SynapDx's CEO, in a press release. "We look forward to broadly collaborating on multiple joint initiatives. Although experts believe early diagnosis and intervention improves outcomes, diagnoses are costly and time-consuming, involving many tests and medical specialists, often causing confusion and stress to worried families."
Parents often call medical specialists when their children fail to mimic speech by age two. This could be a sign of autism, or a just a delay in a normally developed child—especially in boys.
The advantage of an early diagnosis is that treatments seem to work better the sooner they start. But without clear biomarkers or genetic signals for the disorder, the diagnosis is relegated to a wait-and-see approach, Lapidus says.
The key to an early autism diagnosis lies within a blood-based test, he notes. Currently, the average age of an autism diagnosis is 4.5 years, when the telltale signs of slow speech and behavioral quirks such as avoiding eye contact and repetitive play are hard to deny. Lapidus declined to place an age on the future of autism diagnosis.
Lapidus says SynapDx's blood-based test is currently in clinical development, and the company is "working toward the launch of a large study which will involve multiple sites across the U.S. and Canada."
The SynapDx Autism Gene Expression Analysis Study began in October 2012 with a goal to enroll 660 children from at least 18 months to less than five years of age, to be referred to pediatric developmental evaluation centers, according to ClinicalTrials.gov, a service of the U.S. National Institutes of Health (NIH). Enrolled children will have blood drawn for RNA gene expression analysis and undergo a clinical evaluation to determine the presence or absence of a diagnosis of autism spectrum disorder (ASD).
The sequential co-primary objectives of the study are to develop an algorithm to classify blood RNA gene-expression patterns to maximize agreement between the classification and a clinical assessment of presence or absence of ASD, and to prospectively assess the clinical sensitivity and specificity of the blood RNA gene expression classification algorithm (the SDX-002 test) in children referred to a developmental evaluation clinic for a possible developmental disorder. Completion of this study is slated for April 2014.
Matt Posard, senior vice president and general manager of Illumina's Translational and Consumer Genomics business, stated in a press release, "Our relationship with SynapDx highlights our commitment to collaborating with cutting-edge companies doing truly innovative work that will improve patient care. SynapDx's commitment to the early detection of autism makes our work together truly meaningful, and we are pleased to join forces in this important effort."
On Feb. 21, Lapidus addressed the Autism Investment Conference in New York, which was sponsored by nonprofit organization Autism Speaks. Lapidus spoke about the unmet needs in autism diagnosis in a panel discussion entitled "Diagnostics and Enabling Technologies."
Also on Feb. 21, SynapDx announced it secured $2 million in funding from the Laboratory Corporation of America Holdings to support the clinical development of SynapDx's blood-based ASD diagnostic test.
Another recent SynapDx announcement detailed a $6 million round in financing to support further development of its early ASD diagnostic test. Working closely with ASD experts at leading institutions across the country, SynapDx will use the investment to fund further studies planned for later this year.
"SynapDx has proven that it has the right combination of scientific, clinical and entrepreneurial expertise to develop tests that will offer parents and pediatricians a better, faster way to identify these disorders," says Bill Geary, partner in North Bridge Venture Partners. "The company's next phase of clinical development will be critical to thousands of children and their families."
One in 86 children in the U.S. are diagnosed with autism, according to the latest statistics from the NIH. Lapidus is hopeful the SynapDx-Illumina collaborative effort will not only lead to early autism diagnosis and intervention, but also make significant strides in treating these children before starting kindergarten.
Lapidus concludes, "Our technology introduces an entirely new category of testing that has the potential to transform pediatrics and give parents and clinicians much-needed answers."