SynapDx Corp., Illumina join hands

Partners to develop early diagnostic tests for autism

Lori Lesko
LEXINGTON, Mass.—SynapDx Corp. and Illumina Inc. have joinedhands to develop blood-based tests for an autism diagnosis as early as 19months—or younger.
 
 
The ambitious joint venture combines SynapDx's proprietaryautism technologies with San Diego-based Illumina's sequencing platform,according to a March 6 press release. The companies are also using their jointexpertise to broadly evaluate other diagnostic opportunities inneurodevelopment.
 
 
"SynapDx and Illumina share a vision of better pediatriccare through the use of advanced molecular assays and sequencing technologies,"stated Stanley Lapidus, SynapDx's CEO, in a press release. "We look forward tobroadly collaborating on multiple joint initiatives. Although experts believeearly diagnosis and intervention improves outcomes, diagnoses are costly andtime-consuming, involving many tests and medical specialists, often causingconfusion and stress to worried families."
 
 
Parents often call medical specialists when their childrenfail to mimic speech by age two. This could be a sign of autism, or a just adelay in a normally developed child—especially in boys.
 
 
The advantage of an early diagnosis is that treatments seemto work better the sooner they start. But without clear biomarkers or geneticsignals for the disorder, the diagnosis is relegated to a wait-and-seeapproach, Lapidus says.
 
The key to an early autism diagnosis lies within ablood-based test, he notes. Currently, the average age of an autism diagnosisis 4.5 years, when the telltale signs of slow speech and behavioral quirks suchas avoiding eye contact and repetitive play are hard to deny. Lapidus declinedto place an age on the future of autism diagnosis.
 
 
Lapidus says SynapDx's blood-based test is currently inclinical development, and the company is "working toward the launch of a largestudy which will involve multiple sites across the U.S. and Canada." 
 
The SynapDx Autism Gene Expression Analysis Study began inOctober 2012 with a goal to enroll 660 children from at least 18 months to lessthan five years of age, to be referred to pediatric developmental evaluationcenters, according to ClinicalTrials.gov, a service of the U.S. NationalInstitutes of Health (NIH). Enrolled children will have blood drawn for RNAgene expression analysis and undergo a clinical evaluation to determine thepresence or absence of a diagnosis of autism spectrum disorder (ASD).
 
 
The sequential co-primary objectives of the study are todevelop an algorithm to classify blood RNA gene-expression patterns to maximizeagreement between the classification and a clinical assessment of presence orabsence of ASD, and to prospectively assess the clinical sensitivity andspecificity of the blood RNA gene expression classification algorithm (theSDX-002 test) in children referred to a developmental evaluation clinic for apossible developmental disorder. Completion of this study is slated for April2014.
 
 
Matt Posard, senior vice president and general manager ofIllumina's Translational and Consumer Genomics business, stated in a pressrelease, "Our relationship with SynapDx highlights our commitment tocollaborating with cutting-edge companies doing truly innovative work that willimprove patient care. SynapDx's commitment to the early detection of autismmakes our work together truly meaningful, and we are pleased to join forces inthis important effort."
 
 
On Feb. 21, Lapidus addressed the Autism InvestmentConference in New York, which was sponsored by nonprofit organization AutismSpeaks. Lapidus spoke about the unmet needs in autism diagnosis in a paneldiscussion entitled "Diagnostics and Enabling Technologies."
 
 
Also on Feb. 21, SynapDx announced it secured $2 million infunding from the Laboratory Corporation of America Holdings to support theclinical development of SynapDx's blood-based ASD diagnostic test.
 
Another recent SynapDx announcement detailed a $6 millionround in financing to support further development of its early ASD diagnostictest. Working closely with ASD experts at leading institutions across thecountry, SynapDx will use the investment to fund further studies planned forlater this year.
 
 
"SynapDx has proven that it has the right combination ofscientific, clinical and entrepreneurial expertise to develop tests that willoffer parents and pediatricians a better, faster way to identify thesedisorders," says Bill Geary, partner in North Bridge Venture Partners. "The company'snext phase of clinical development will be critical to thousands of childrenand 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 theSynapDx-Illumina collaborative effort will not only lead to early autismdiagnosis and intervention, but also make significant strides in treating thesechildren before starting kindergarten.
 
Lapidus concludes, "Our technology introduces an entirelynew category of testing that has the potential to transform pediatrics and giveparents and clinicians much-needed answers."
 
 
 

Lori Lesko

Subscribe to Newsletter
Subscribe to our eNewsletters

Stay connected with all of the latest from Drug Discovery News.

Front Cover

Latest Issue  

• Volume 18 • Issue 12 • December 2022/January 2023

December 2022/January 2023

December 2022/January 2023 issue